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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: 22-31619685-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31619685&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31619685,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001326411.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1157C>A",
"hgvs_p": "p.Ala386Asp",
"transcript": "NM_001326411.2",
"protein_id": "NP_001313340.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 409,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439502.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326411.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1157C>A",
"hgvs_p": "p.Ala386Asp",
"transcript": "ENST00000439502.7",
"protein_id": "ENSP00000391739.2",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 409,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001326411.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439502.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "ENST00000266095.9",
"protein_id": "ENSP00000266095.5",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266095.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "n.1340C>A",
"hgvs_p": null,
"transcript": "ENST00000460723.5",
"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": "ENST00000460723.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1142C>A",
"hgvs_p": "p.Ala381Asp",
"transcript": "ENST00000930692.1",
"protein_id": "ENSP00000600751.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 404,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930692.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1118C>A",
"hgvs_p": "p.Ala373Asp",
"transcript": "ENST00000892605.1",
"protein_id": "ENSP00000562664.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 396,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892605.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1094C>A",
"hgvs_p": "p.Ala365Asp",
"transcript": "NM_001326412.1",
"protein_id": "NP_001313341.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 388,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326412.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1094C>A",
"hgvs_p": "p.Ala365Asp",
"transcript": "NM_001326413.2",
"protein_id": "NP_001313342.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 388,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326413.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1094C>A",
"hgvs_p": "p.Ala365Asp",
"transcript": "NM_001326414.2",
"protein_id": "NP_001313343.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 388,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326414.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1094C>A",
"hgvs_p": "p.Ala365Asp",
"transcript": "ENST00000892604.1",
"protein_id": "ENSP00000562663.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 388,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892604.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "NM_001326415.2",
"protein_id": "NP_001313344.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326415.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "NM_001326416.2",
"protein_id": "NP_001313345.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326416.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "NM_001326417.2",
"protein_id": "NP_001313346.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326417.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "NM_014338.4",
"protein_id": "NP_055153.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014338.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "NM_178022.2",
"protein_id": "NP_821141.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178022.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "ENST00000382151.6",
"protein_id": "ENSP00000371586.2",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382151.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Ala352Asp",
"transcript": "ENST00000930690.1",
"protein_id": "ENSP00000600749.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930690.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.1013C>A",
"hgvs_p": "p.Ala338Asp",
"transcript": "ENST00000435900.5",
"protein_id": "ENSP00000414395.1",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 361,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435900.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.977C>A",
"hgvs_p": "p.Ala326Asp",
"transcript": "NM_001326418.2",
"protein_id": "NP_001313347.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 349,
"cds_start": 977,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326418.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.941C>A",
"hgvs_p": "p.Ala314Asp",
"transcript": "NM_001326419.2",
"protein_id": "NP_001313348.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 337,
"cds_start": 941,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326419.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.920C>A",
"hgvs_p": "p.Ala307Asp",
"transcript": "ENST00000930689.1",
"protein_id": "ENSP00000600748.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 330,
"cds_start": 920,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930689.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PISD",
"gene_hgnc_id": 8999,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Asp",
"transcript": "NM_001326420.2",
"protein_id": "NP_001313349.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 311,
"cds_start": 863,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326420.2"
},
{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.7178541421890259,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.571,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 2,
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_001326411.2",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}