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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: 9-133666782-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133666782&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133666782,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007101.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "NM_001134707.2",
"protein_id": "NP_001128179.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439388.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134707.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000439388.6",
"protein_id": "ENSP00000403084.1",
"transcript_support_level": 2,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134707.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439388.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000371872.8",
"protein_id": "ENSP00000360938.4",
"transcript_support_level": 1,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371872.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2764G>A",
"hgvs_p": "p.Asp922Asn",
"transcript": "ENST00000859366.1",
"protein_id": "ENSP00000529425.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 978,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859366.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Asp891Asn",
"transcript": "ENST00000859363.1",
"protein_id": "ENSP00000529422.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 947,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859363.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Asp891Asn",
"transcript": "ENST00000859364.1",
"protein_id": "ENSP00000529423.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 947,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859364.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Asp891Asn",
"transcript": "ENST00000859370.1",
"protein_id": "ENSP00000529429.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 947,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859370.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Asp869Asn",
"transcript": "ENST00000859367.1",
"protein_id": "ENSP00000529426.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 925,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859367.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "NM_007101.4",
"protein_id": "NP_009032.2",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007101.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000859362.1",
"protein_id": "ENSP00000529421.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859362.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000859369.1",
"protein_id": "ENSP00000529428.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859369.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000859372.1",
"protein_id": "ENSP00000529431.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859372.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000859373.1",
"protein_id": "ENSP00000529432.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859373.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000859374.1",
"protein_id": "ENSP00000529433.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859374.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "ENST00000859375.1",
"protein_id": "ENSP00000529434.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859375.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Asp861Asn",
"transcript": "ENST00000859365.1",
"protein_id": "ENSP00000529424.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 917,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859365.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2500G>A",
"hgvs_p": "p.Asp834Asn",
"transcript": "ENST00000859371.1",
"protein_id": "ENSP00000529430.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 890,
"cds_start": 2500,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859371.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2479G>A",
"hgvs_p": "p.Asp827Asn",
"transcript": "ENST00000859368.1",
"protein_id": "ENSP00000529427.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 883,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859368.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Asp697Asn",
"transcript": "ENST00000928146.1",
"protein_id": "ENSP00000598205.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 753,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928146.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Asp312Asn",
"transcript": "ENST00000371868.5",
"protein_id": "ENSP00000360934.1",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 368,
"cds_start": 934,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371868.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "XM_047422894.1",
"protein_id": "XP_047278850.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422894.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Asp862Asn",
"transcript": "XM_047422895.1",
"protein_id": "XP_047278851.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 918,
"cds_start": 2584,
"cds_end": null,
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"cdna_start": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -6,
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"acmg_by_gene": [
{
"score": -6,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_007101.4",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}