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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: 7-33357948-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=33357948&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 33357948,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000242067.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "NM_198428.3",
"protein_id": "NP_940820.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 887,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "ENST00000242067.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "ENST00000242067.11",
"protein_id": "ENSP00000242067.6",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 887,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": "NM_198428.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.344C>A",
"hgvs_p": "p.Thr115Asn",
"transcript": "ENST00000434373.3",
"protein_id": "ENSP00000388114.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 453,
"cds_start": 344,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1982,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "n.*407C>A",
"hgvs_p": null,
"transcript": "ENST00000433714.5",
"protein_id": "ENSP00000412159.1",
"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": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "n.*407C>A",
"hgvs_p": null,
"transcript": "ENST00000433714.5",
"protein_id": "ENSP00000412159.1",
"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": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1769C>A",
"hgvs_p": "p.Thr590Asn",
"transcript": "ENST00000671871.1",
"protein_id": "ENSP00000499908.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 928,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "NM_001348041.4",
"protein_id": "NP_001334970.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 908,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "ENST00000673056.1",
"protein_id": "ENSP00000499989.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 908,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "NM_001348036.1",
"protein_id": "NP_001334965.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 887,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "NM_001348043.3",
"protein_id": "NP_001334972.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 886,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1631C>A",
"hgvs_p": "p.Thr544Asn",
"transcript": "NM_001033605.2",
"protein_id": "NP_001028777.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 882,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1631C>A",
"hgvs_p": "p.Thr544Asn",
"transcript": "ENST00000355070.6",
"protein_id": "ENSP00000347182.2",
"transcript_support_level": 5,
"aa_start": 544,
"aa_end": null,
"aa_length": 882,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "NM_001362679.1",
"protein_id": "NP_001349608.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 871,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Asn",
"transcript": "ENST00000671952.1",
"protein_id": "ENSP00000500239.1",
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"aa_start": 549,
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"cds_start": 1646,
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"cdna_start": 1877,
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"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1541C>A",
"hgvs_p": "p.Thr514Asn",
"transcript": "NM_001033604.2",
"protein_id": "NP_001028776.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 852,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1541C>A",
"hgvs_p": "p.Thr514Asn",
"transcript": "ENST00000396127.6",
"protein_id": "ENSP00000379433.2",
"transcript_support_level": 5,
"aa_start": 514,
"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1541C>A",
"hgvs_p": "p.Thr514Asn",
"transcript": "ENST00000672717.1",
"protein_id": "ENSP00000499835.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 852,
"cds_start": 1541,
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"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1526C>A",
"hgvs_p": "p.Thr509Asn",
"transcript": "NM_014451.4",
"protein_id": "NP_055266.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 847,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1526C>A",
"hgvs_p": "p.Thr509Asn",
"transcript": "ENST00000350941.7",
"protein_id": "ENSP00000313122.6",
"transcript_support_level": 5,
"aa_start": 509,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1526C>A",
"hgvs_p": "p.Thr509Asn",
"transcript": "NM_001348040.3",
"protein_id": "NP_001334969.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 846,
"cds_start": 1526,
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"cdna_start": 2015,
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"cdna_length": 3873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1511C>A",
"hgvs_p": "p.Thr504Asn",
"transcript": "NM_001348042.3",
"protein_id": "NP_001334971.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 842,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1511C>A",
"hgvs_p": "p.Thr504Asn",
"transcript": "ENST00000671890.1",
"protein_id": "ENSP00000500146.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 842,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
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