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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: 22-40358950-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40358950&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40358950,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000623063.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "NM_000026.4",
"protein_id": "NP_000017.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 484,
"cds_start": 569,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": "ENST00000623063.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000623063.3",
"protein_id": "ENSP00000485525.1",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 484,
"cds_start": 569,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": "NM_000026.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000342312.9",
"protein_id": "ENSP00000341429.6",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 425,
"cds_start": 569,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "n.569G>T",
"hgvs_p": null,
"transcript": "ENST00000480775.3",
"protein_id": "ENSP00000485462.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*265G>T",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*265G>T",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "NM_001410812.1",
"protein_id": "NP_001397741.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 526,
"cds_start": 569,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000680978.1",
"protein_id": "ENSP00000505244.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 526,
"cds_start": 569,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.656G>T",
"hgvs_p": "p.Arg219Leu",
"transcript": "ENST00000680378.1",
"protein_id": "ENSP00000505556.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 513,
"cds_start": 656,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.611G>T",
"hgvs_p": "p.Arg204Leu",
"transcript": "ENST00000216194.11",
"protein_id": "ENSP00000216194.8",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 498,
"cds_start": 611,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000625194.4",
"protein_id": "ENSP00000485289.2",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 498,
"cds_start": 569,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "NM_001363840.3",
"protein_id": "NP_001350769.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 480,
"cds_start": 569,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000636714.1",
"protein_id": "ENSP00000490946.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 480,
"cds_start": 569,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"transcript": "NM_001410814.1",
"protein_id": "NP_001397743.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 469,
"cds_start": 524,
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"cdna_start": 583,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"transcript": "ENST00000679723.1",
"protein_id": "ENSP00000505155.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 469,
"cds_start": 524,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "NM_001410816.1",
"protein_id": "NP_001397745.1",
"transcript_support_level": null,
"aa_start": 190,
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"aa_length": 467,
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"cdna_start": 628,
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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": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000637666.2",
"protein_id": "ENSP00000489696.2",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 467,
"cds_start": 569,
"cds_end": null,
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"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "NM_001123378.3",
"protein_id": "NP_001116850.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 425,
"cds_start": 569,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Arg126Leu",
"transcript": "NM_001317923.2",
"protein_id": "NP_001304852.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
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"cds_start": 377,
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"cdna_start": 573,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000636265.1",
"protein_id": "ENSP00000490909.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 402,
"cds_start": 569,
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"cdna_start": 599,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"transcript": "ENST00000623632.4",
"protein_id": "ENSP00000485288.2",
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": 381,
"cds_start": 569,
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"cdna_start": 667,
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"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.29G>T",
"hgvs_p": "p.Arg10Leu",
"transcript": "ENST00000623978.3",
"protein_id": "ENSP00000485477.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 132,
"cds_start": 29,
"cds_end": null,
"cds_length": 401,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADSL",
"gene_hgnc_id": 291,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"transcript": "XM_017028636.2",
"protein_id": "XP_016884125.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 511,
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}