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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: 9-20988427-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=20988427&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 20988427,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_017794.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "NM_001375567.1",
"protein_id": "NP_001362496.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338382.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375567.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000338382.11",
"protein_id": "ENSP00000344307.6",
"transcript_support_level": 5,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375567.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338382.11"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000380249.5",
"protein_id": "ENSP00000369599.1",
"transcript_support_level": 1,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380249.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "n.3472A>C",
"hgvs_p": null,
"transcript": "ENST00000605086.5",
"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": "ENST00000605086.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "NM_017794.5",
"protein_id": "NP_060264.4",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017794.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000894775.1",
"protein_id": "ENSP00000564834.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894775.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000894776.1",
"protein_id": "ENSP00000564835.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894776.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000894777.1",
"protein_id": "ENSP00000564836.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894777.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000939139.1",
"protein_id": "ENSP00000609198.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939139.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000939140.1",
"protein_id": "ENSP00000609199.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939140.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000964697.1",
"protein_id": "ENSP00000634756.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964697.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000964698.1",
"protein_id": "ENSP00000634757.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964698.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln",
"transcript": "ENST00000964699.1",
"protein_id": "ENSP00000634758.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5002,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964699.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4957A>C",
"hgvs_p": "p.Lys1653Gln",
"transcript": "ENST00000894779.1",
"protein_id": "ENSP00000564838.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 1786,
"cds_start": 4957,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894779.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4912A>C",
"hgvs_p": "p.Lys1638Gln",
"transcript": "ENST00000939141.1",
"protein_id": "ENSP00000609200.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 1771,
"cds_start": 4912,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939141.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4897A>C",
"hgvs_p": "p.Lys1633Gln",
"transcript": "NM_001375568.1",
"protein_id": "NP_001362497.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1766,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375568.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4897A>C",
"hgvs_p": "p.Lys1633Gln",
"transcript": "NM_001375570.1",
"protein_id": "NP_001362499.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1766,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375570.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4897A>C",
"hgvs_p": "p.Lys1633Gln",
"transcript": "ENST00000894780.1",
"protein_id": "ENSP00000564839.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1766,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894780.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4897A>C",
"hgvs_p": "p.Lys1633Gln",
"transcript": "ENST00000894783.1",
"protein_id": "ENSP00000564842.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1766,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894783.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4897A>C",
"hgvs_p": "p.Lys1633Gln",
"transcript": "ENST00000939137.1",
"protein_id": "ENSP00000609196.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1766,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939137.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOCAD",
"gene_hgnc_id": 23377,
"hgvs_c": "c.4897A>C",
"hgvs_p": "p.Lys1633Gln",
"transcript": "ENST00000939142.1",
"protein_id": "ENSP00000609201.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1766,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939142.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0988817811012268,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.012000000104308128,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.639,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000302143766929965,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017794.5",
"gene_symbol": "FOCAD",
"hgnc_id": 23377,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5002A>C",
"hgvs_p": "p.Lys1668Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}