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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: 8-42463011-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42463011&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42463011,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000520262.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "NM_001257180.2",
"protein_id": "NP_001244109.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": "ENST00000520262.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "ENST00000520262.6",
"protein_id": "ENSP00000429754.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": "NM_001257180.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "ENST00000342228.7",
"protein_id": "ENSP00000340465.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "ENST00000520179.5",
"protein_id": "ENSP00000429712.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "NM_001257181.2",
"protein_id": "NP_001244110.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "NM_006749.5",
"protein_id": "NP_006740.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "ENST00000517366.2",
"protein_id": "ENSP00000427756.2",
"transcript_support_level": 4,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "ENST00000518384.2",
"protein_id": "ENSP00000430462.2",
"transcript_support_level": 4,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "ENST00000518717.2",
"protein_id": "ENSP00000430166.2",
"transcript_support_level": 4,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "ENST00000713988.1",
"protein_id": "ENSP00000519279.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "XM_005273613.4",
"protein_id": "XP_005273670.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "XM_017013748.2",
"protein_id": "XP_016869237.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 868,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "XM_024447235.2",
"protein_id": "XP_024303003.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
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"cdna_start": 1570,
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"cdna_length": 4348,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "XM_024447236.2",
"protein_id": "XP_024303004.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "XM_047422120.1",
"protein_id": "XP_047278076.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 652,
"cds_start": 509,
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"cdna_start": 829,
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"cdna_length": 3607,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "XM_047422121.1",
"protein_id": "XP_047278077.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs",
"transcript": "XM_047422122.1",
"protein_id": "XP_047278078.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
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"cds_start": 509,
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"cdna_start": 796,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.368delT",
"hgvs_p": "p.Leu123fs",
"transcript": "XM_006716390.5",
"protein_id": "XP_006716453.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 605,
"cds_start": 368,
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"cdna_start": 806,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.368delT",
"hgvs_p": "p.Leu123fs",
"transcript": "XM_017013749.3",
"protein_id": "XP_016869238.1",
"transcript_support_level": null,
"aa_start": 123,
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},
{
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"consequences": [
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],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.368delT",
"hgvs_p": "p.Leu123fs",
"transcript": "XM_024447237.2",
"protein_id": "XP_024303005.1",
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"aa_end": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.368delT",
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"transcript": "XM_047422123.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.368delT",
"hgvs_p": "p.Leu123fs",
"transcript": "XM_047422124.1",
"protein_id": "XP_047278080.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 605,
"cds_start": 368,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "c.98delT",
"hgvs_p": "p.Leu33fs",
"transcript": "XM_017013752.3",
"protein_id": "XP_016869241.1",
"transcript_support_level": null,
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"cdna_start": 908,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
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"hgvs_c": "n.235delT",
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"transcript": "ENST00000518660.5",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "SLC20A2",
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"hgvs_c": "n.376delT",
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"transcript": "ENST00000713989.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"hgvs_c": "n.*326delT",
"hgvs_p": null,
"transcript": "ENST00000524211.1",
"protein_id": "ENSP00000429989.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC20A2",
"gene_hgnc_id": 10947,
"dbsnp": "rs398122395",
"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": 0.10000000149011612,
"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": 9.321,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.1,
"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": "ENST00000520262.6",
"gene_symbol": "SLC20A2",
"hgnc_id": 10947,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.509delT",
"hgvs_p": "p.Leu170fs"
}
],
"clinvar_disease": "Idiopathic basal ganglia calcification 1,SLC20A2-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided|Idiopathic basal ganglia calcification 1|SLC20A2-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}