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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: 17-1585932-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1585932&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1585932,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001284498.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "NM_152346.3",
"protein_id": "NP_689559.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301335.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152346.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000301335.10",
"protein_id": "ENSP00000301335.5",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152346.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301335.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Glu404Lys",
"transcript": "ENST00000571650.5",
"protein_id": "ENSP00000461382.1",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 573,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571650.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "n.1381G>A",
"hgvs_p": null,
"transcript": "ENST00000572135.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000572135.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "n.1337G>A",
"hgvs_p": null,
"transcript": "ENST00000574743.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574743.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys",
"transcript": "ENST00000952273.1",
"protein_id": "ENSP00000622332.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 596,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952273.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Glu423Lys",
"transcript": "ENST00000894524.1",
"protein_id": "ENSP00000564583.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 592,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894524.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Glu423Lys",
"transcript": "ENST00000894529.1",
"protein_id": "ENSP00000564588.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 592,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894529.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Glu416Lys",
"transcript": "ENST00000894527.1",
"protein_id": "ENSP00000564586.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 585,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894527.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Glu415Lys",
"transcript": "ENST00000952275.1",
"protein_id": "ENSP00000622334.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 584,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952275.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Glu404Lys",
"transcript": "NM_001284498.2",
"protein_id": "NP_001271427.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 573,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284498.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Glu404Lys",
"transcript": "NM_001321364.2",
"protein_id": "NP_001308293.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 573,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321364.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Glu404Lys",
"transcript": "NM_001321365.2",
"protein_id": "NP_001308294.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 573,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321365.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Glu404Lys",
"transcript": "ENST00000952271.1",
"protein_id": "ENSP00000622330.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 573,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952271.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Glu404Lys",
"transcript": "ENST00000952272.1",
"protein_id": "ENSP00000622331.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 573,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952272.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000894522.1",
"protein_id": "ENSP00000564581.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894522.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000894523.1",
"protein_id": "ENSP00000564582.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894523.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000894525.1",
"protein_id": "ENSP00000564584.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894525.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000894530.1",
"protein_id": "ENSP00000564589.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894530.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000932309.1",
"protein_id": "ENSP00000602368.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932309.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000952274.1",
"protein_id": "ENSP00000622333.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 569,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952274.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC43A2",
"gene_hgnc_id": 23087,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Glu400Lys",
"transcript": "ENST00000894528.1",
"protein_id": "ENSP00000564587.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 565,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1698,
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{
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{
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],
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],
"gene_symbol": "SLC43A2",
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"dbsnp": "rs137987228",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33157700300216675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.0724,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.448,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001284498.2",
"gene_symbol": "SLC43A2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}