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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: 9-711399-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=711399&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 711399,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015158.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "NM_015158.5",
"protein_id": "NP_055973.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382297.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015158.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000382297.7",
"protein_id": "ENSP00000371734.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015158.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382297.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000382303.5",
"protein_id": "ENSP00000371740.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382303.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.159G>C",
"hgvs_p": "p.Gln53His",
"transcript": "ENST00000382293.7",
"protein_id": "ENSP00000371730.3",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 1194,
"cds_start": 159,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382293.7"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.38-18652G>C",
"hgvs_p": null,
"transcript": "ENST00000382289.7",
"protein_id": "ENSP00000371726.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382289.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000619269.5",
"protein_id": "ENSP00000477725.2",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 1375,
"cds_start": 633,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619269.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903907.1",
"protein_id": "ENSP00000573966.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1375,
"cds_start": 633,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903907.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000949415.1",
"protein_id": "ENSP00000619474.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1367,
"cds_start": 633,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949415.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "NM_001256876.3",
"protein_id": "NP_001243805.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256876.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "NM_001256877.3",
"protein_id": "NP_001243806.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256877.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "NM_001354334.2",
"protein_id": "NP_001341263.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354334.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "NM_001438412.1",
"protein_id": "NP_001425341.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438412.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000674102.1",
"protein_id": "ENSP00000501167.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674102.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000685947.1",
"protein_id": "ENSP00000508833.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685947.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000689779.1",
"protein_id": "ENSP00000508451.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689779.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903884.1",
"protein_id": "ENSP00000573943.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903884.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903885.1",
"protein_id": "ENSP00000573944.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903885.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903887.1",
"protein_id": "ENSP00000573946.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903887.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903889.1",
"protein_id": "ENSP00000573948.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903889.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903891.1",
"protein_id": "ENSP00000573950.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903891.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903893.1",
"protein_id": "ENSP00000573952.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903893.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His",
"transcript": "ENST00000903895.1",
"protein_id": "ENSP00000573954.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1352,
"cds_start": 633,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "KANK1",
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"dbsnp": "rs114076603",
"frequency_reference_population": 0.00053774164,
"hom_count_reference_population": 4,
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"gnomad_exomes_af": 0.000274991,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002744823694229126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.1076,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.154,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015158.5",
"gene_symbol": "KANK1",
"hgnc_id": 19309,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Gln211His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}