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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: 6-8417461-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=8417461&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 8417461,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001370476.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_001370476.2",
"protein_id": "NP_001357405.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": "ENST00000644923.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000644923.2",
"protein_id": "ENSP00000496368.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": "NM_001370476.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000379660.4",
"protein_id": "ENSP00000368981.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "ENST00000710437.1",
"protein_id": "ENSP00000518269.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_001142540.2",
"protein_id": "NP_001136012.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_001142541.3",
"protein_id": "NP_001136013.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_015948.5",
"protein_id": "NP_057032.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "NM_001370478.2",
"protein_id": "NP_001357407.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "NM_001370479.2",
"protein_id": "NP_001357408.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "ENST00000648987.1",
"protein_id": "ENSP00000498054.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1144A>G",
"hgvs_p": "p.Ile382Val",
"transcript": "XM_047418840.1",
"protein_id": "XP_047274796.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 511,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "XM_017010910.2",
"protein_id": "XP_016866399.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "XM_017010911.2",
"protein_id": "XP_016866400.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 401,
"cds_start": 814,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "XM_011514648.2",
"protein_id": "XP_011512950.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "XM_047418842.1",
"protein_id": "XP_047274798.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "XM_047418843.1",
"protein_id": "XP_047274799.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "XM_047418844.1",
"protein_id": "XP_047274800.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Ile240Val",
"transcript": "XM_047418845.1",
"protein_id": "XP_047274801.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 369,
"cds_start": 718,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.His349Arg",
"transcript": "XM_047418847.1",
"protein_id": "XP_047274803.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 356,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.*104A>G",
"hgvs_p": null,
"transcript": "ENST00000648867.1",
"protein_id": "ENSP00000497645.1",
"transcript_support_level": null,
"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": 2200,
"mane_select": null,
"mane_plus": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.*104A>G",
"hgvs_p": null,
"transcript": "ENST00000649788.1",
"protein_id": "ENSP00000496851.1",
"transcript_support_level": null,
"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": 2442,
"mane_select": null,
"mane_plus": null,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
"gene_hgnc_id": 21601,
"hgvs_c": "n.1317A>G",
"hgvs_p": null,
"transcript": "NR_109913.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3823,
"mane_select": null,
"mane_plus": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B3",
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