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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-74060485-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74060485&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74060485,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000252034.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1733delC",
"hgvs_p": "p.Pro578fs",
"transcript": "NM_000501.4",
"protein_id": "NP_000492.2",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 724,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000252034.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1733delC",
"hgvs_p": "p.Pro578fs",
"transcript": "ENST00000252034.12",
"protein_id": "ENSP00000252034.7",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 724,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_000501.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1751delC",
"hgvs_p": "p.Pro584fs",
"transcript": "ENST00000380562.8",
"protein_id": "ENSP00000369936.4",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 730,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1703delC",
"hgvs_p": "p.Pro568fs",
"transcript": "ENST00000458204.5",
"protein_id": "ENSP00000403162.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 714,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1748delC",
"hgvs_p": "p.Pro583fs",
"transcript": "ENST00000357036.9",
"protein_id": "ENSP00000349540.5",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 711,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1676delC",
"hgvs_p": "p.Pro559fs",
"transcript": "ENST00000380576.9",
"protein_id": "ENSP00000369950.5",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 705,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1646delC",
"hgvs_p": "p.Pro549fs",
"transcript": "ENST00000380575.8",
"protein_id": "ENSP00000369949.4",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 677,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1589delC",
"hgvs_p": "p.Pro530fs",
"transcript": "ENST00000380584.8",
"protein_id": "ENSP00000369958.4",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 658,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1820delC",
"hgvs_p": "p.Pro607fs",
"transcript": "NM_001278939.2",
"protein_id": "NP_001265868.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 786,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1820delC",
"hgvs_p": "p.Pro607fs",
"transcript": "ENST00000692049.1",
"protein_id": "ENSP00000510104.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 786,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1733delC",
"hgvs_p": "p.Pro578fs",
"transcript": "ENST00000320399.10",
"protein_id": "ENSP00000313565.6",
"transcript_support_level": 5,
"aa_start": 578,
"aa_end": null,
"aa_length": 757,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1751delC",
"hgvs_p": "p.Pro584fs",
"transcript": "NM_001278915.2",
"protein_id": "NP_001265844.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 730,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1703delC",
"hgvs_p": "p.Pro568fs",
"transcript": "NM_001278917.2",
"protein_id": "NP_001265846.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 714,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1748delC",
"hgvs_p": "p.Pro583fs",
"transcript": "NM_001081754.3",
"protein_id": "NP_001075223.1",
"transcript_support_level": null,
"aa_start": 583,
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"cds_start": 1748,
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"cdna_start": 1763,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1733delC",
"hgvs_p": "p.Pro578fs",
"transcript": "NM_001278912.2",
"protein_id": "NP_001265841.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 706,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1748,
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"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1733delC",
"hgvs_p": "p.Pro578fs",
"transcript": "ENST00000445912.5",
"protein_id": "ENSP00000389857.1",
"transcript_support_level": 2,
"aa_start": 578,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1676delC",
"hgvs_p": "p.Pro559fs",
"transcript": "NM_001081755.3",
"protein_id": "NP_001075224.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 705,
"cds_start": 1676,
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"cds_length": 2118,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1661delC",
"hgvs_p": "p.Pro554fs",
"transcript": "NM_001278914.2",
"protein_id": "NP_001265843.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 700,
"cds_start": 1661,
"cds_end": null,
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"cdna_start": 1676,
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"cdna_length": 3325,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1661delC",
"hgvs_p": "p.Pro554fs",
"transcript": "ENST00000414324.5",
"protein_id": "ENSP00000392575.1",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
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"cds_start": 1661,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1691delC",
"hgvs_p": "p.Pro564fs",
"transcript": "NM_001081753.3",
"protein_id": "NP_001075222.1",
"transcript_support_level": null,
"aa_start": 564,
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"cds_start": 1691,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1691delC",
"hgvs_p": "p.Pro564fs",
"transcript": "ENST00000429192.5",
"protein_id": "ENSP00000391129.1",
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"cds_start": 1691,
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"cdna_start": 1706,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1646delC",
"hgvs_p": "p.Pro549fs",
"transcript": "NM_001081752.3",
"protein_id": "NP_001075221.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 677,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1589delC",
"hgvs_p": "p.Pro530fs",
"transcript": "NM_001278916.2",
"protein_id": "NP_001265845.1",
"transcript_support_level": null,
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"canonical": false,
"protein_coding": false,
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"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ELN-AS1",
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"hgvs_c": "n.100-454delG",
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"transcript": "ENST00000435932.3",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ELN-AS1",
"gene_hgnc_id": 40212,
"hgvs_c": "n.72-454delG",
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"transcript": "NR_183555.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1199,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"dbsnp": "rs727503782",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.711,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000252034.12",
"gene_symbol": "ELN",
"hgnc_id": 3327,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1733delC",
"hgvs_p": "p.Pro578fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000435932.3",
"gene_symbol": "ELN-AS1",
"hgnc_id": 40212,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.100-454delG",
"hgvs_p": null
}
],
"clinvar_disease": "Supravalvar aortic stenosis",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Supravalvar aortic stenosis",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}