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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: 1-155137561-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155137561&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155137561,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_018845.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Arg95Gly",
"transcript": "NM_018845.4",
"protein_id": "NP_061333.2",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 221,
"cds_start": 283,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368404.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018845.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Arg95Gly",
"transcript": "ENST00000368404.9",
"protein_id": "ENSP00000357389.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 221,
"cds_start": 283,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018845.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368404.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.118C>G",
"hgvs_p": "p.Arg40Gly",
"transcript": "ENST00000368401.6",
"protein_id": "ENSP00000357386.5",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 166,
"cds_start": 118,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368401.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283-418C>G",
"hgvs_p": null,
"transcript": "ENST00000303343.12",
"protein_id": "ENSP00000306146.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303343.12"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.262C>G",
"hgvs_p": "p.Arg88Gly",
"transcript": "NM_001287587.2",
"protein_id": "NP_001274516.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 214,
"cds_start": 262,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287587.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.205C>G",
"hgvs_p": "p.Arg69Gly",
"transcript": "ENST00000864376.1",
"protein_id": "ENSP00000534435.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 195,
"cds_start": 205,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864376.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.154C>G",
"hgvs_p": "p.Arg52Gly",
"transcript": "ENST00000957827.1",
"protein_id": "ENSP00000627886.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 178,
"cds_start": 154,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957827.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "NM_001287586.2",
"protein_id": "NP_001274515.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 175,
"cds_start": 145,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287586.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "ENST00000622581.4",
"protein_id": "ENSP00000481368.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 175,
"cds_start": 145,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622581.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.127C>G",
"hgvs_p": "p.Arg43Gly",
"transcript": "ENST00000864377.1",
"protein_id": "ENSP00000534436.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 169,
"cds_start": 127,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864377.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.118C>G",
"hgvs_p": "p.Arg40Gly",
"transcript": "NM_001122837.2",
"protein_id": "NP_001116309.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 166,
"cds_start": 118,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122837.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.88C>G",
"hgvs_p": "p.Arg30Gly",
"transcript": "NM_001287590.2",
"protein_id": "NP_001274519.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 156,
"cds_start": 88,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287590.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.88C>G",
"hgvs_p": "p.Arg30Gly",
"transcript": "ENST00000484157.5",
"protein_id": "ENSP00000420189.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 156,
"cds_start": 88,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484157.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.118C>G",
"hgvs_p": "p.Arg40Gly",
"transcript": "NM_001287588.2",
"protein_id": "NP_001274517.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 136,
"cds_start": 118,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287588.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.235C>G",
"hgvs_p": "p.Arg79Gly",
"transcript": "XM_047425442.1",
"protein_id": "XP_047281398.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 205,
"cds_start": 235,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425442.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Arg78Gly",
"transcript": "XM_047425443.1",
"protein_id": "XP_047281399.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 204,
"cds_start": 232,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425443.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Arg95Gly",
"transcript": "XM_006711453.3",
"protein_id": "XP_006711516.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 191,
"cds_start": 283,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711453.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.187C>G",
"hgvs_p": "p.Arg63Gly",
"transcript": "XM_005245342.4",
"protein_id": "XP_005245399.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 189,
"cds_start": 187,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245342.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.91C>G",
"hgvs_p": "p.Arg31Gly",
"transcript": "XM_047425464.1",
"protein_id": "XP_047281420.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 157,
"cds_start": 91,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.187-18C>G",
"hgvs_p": null,
"transcript": "NM_001287591.2",
"protein_id": "NP_001274520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287591.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.283-418C>G",
"hgvs_p": null,
"transcript": "NM_001122839.2",
"protein_id": "NP_001116311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122839.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC50A1",
"gene_hgnc_id": 30657,
"hgvs_c": "c.118-418C>G",
"hgvs_p": null,
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}
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"message": null
}