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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: 1-46934294-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46934294&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46934294,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000778.4",
"consequences": [
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Asp324Asn",
"transcript": "NM_000778.4",
"protein_id": "NP_000769.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 519,
"cds_start": 970,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310638.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000778.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Asp324Asn",
"transcript": "ENST00000310638.9",
"protein_id": "ENSP00000311095.4",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 519,
"cds_start": 970,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310638.9"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Asp324Asn",
"transcript": "ENST00000371905.1",
"protein_id": "ENSP00000360972.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 455,
"cds_start": 970,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "n.609-289G>A",
"hgvs_p": null,
"transcript": "ENST00000465874.5",
"protein_id": "ENSP00000476368.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000465874.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Asp361Asn",
"transcript": "ENST00000909039.1",
"protein_id": "ENSP00000579098.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 556,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909039.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Asp332Asn",
"transcript": "ENST00000909036.1",
"protein_id": "ENSP00000579095.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 527,
"cds_start": 994,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909036.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Asp330Asn",
"transcript": "ENST00000909031.1",
"protein_id": "ENSP00000579090.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 525,
"cds_start": 988,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909031.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Asp321Asn",
"transcript": "ENST00000909028.1",
"protein_id": "ENSP00000579087.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 516,
"cds_start": 961,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909028.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Asp318Asn",
"transcript": "ENST00000909041.1",
"protein_id": "ENSP00000579100.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 513,
"cds_start": 952,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909041.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Asp314Asn",
"transcript": "ENST00000909056.1",
"protein_id": "ENSP00000579115.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 509,
"cds_start": 940,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909056.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Asp309Asn",
"transcript": "ENST00000909035.1",
"protein_id": "ENSP00000579094.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 504,
"cds_start": 925,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909035.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Asp324Asn",
"transcript": "ENST00000909045.1",
"protein_id": "ENSP00000579104.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 502,
"cds_start": 970,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909045.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Asp303Asn",
"transcript": "ENST00000909022.1",
"protein_id": "ENSP00000579081.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 498,
"cds_start": 907,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909022.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Asp302Asn",
"transcript": "ENST00000909027.1",
"protein_id": "ENSP00000579086.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 497,
"cds_start": 904,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909027.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Asp298Asn",
"transcript": "ENST00000909058.1",
"protein_id": "ENSP00000579117.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 493,
"cds_start": 892,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909058.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"transcript": "NM_001319155.2",
"protein_id": "NP_001306084.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 487,
"cds_start": 874,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319155.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"transcript": "ENST00000909023.1",
"protein_id": "ENSP00000579082.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 487,
"cds_start": 874,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909023.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Asp289Asn",
"transcript": "ENST00000909057.1",
"protein_id": "ENSP00000579116.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 484,
"cds_start": 865,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909057.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"transcript": "ENST00000909050.1",
"protein_id": "ENSP00000579109.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 476,
"cds_start": 841,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909050.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"transcript": "ENST00000909037.1",
"protein_id": "ENSP00000579096.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 470,
"cds_start": 823,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909037.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000909049.1",
"protein_id": "ENSP00000579108.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 459,
"cds_start": 790,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909049.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Asp255Asn",
"transcript": "ENST00000909040.1",
"protein_id": "ENSP00000579099.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 450,
"cds_start": 763,
"cds_end": null,
"cds_length": 1353,
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{
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],
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],
"gene_symbol": "CYP4A11",
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"dbsnp": "rs1488482611",
"frequency_reference_population": 0.0000068250406,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000615931,
"gnomad_genomes_af": 0.0000132882,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9515111446380615,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.569,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8465,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.097,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000778.4",
"gene_symbol": "CYP4A11",
"hgnc_id": 2642,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Asp324Asn"
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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
}