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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: 14-67023673-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67023673&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67023673,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000478722.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1004C>A",
"hgvs_p": "p.Ala335Asp",
"transcript": "NM_020806.5",
"protein_id": "NP_065857.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 769,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "ENST00000478722.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1004C>A",
"hgvs_p": "p.Ala335Asp",
"transcript": "ENST00000478722.6",
"protein_id": "ENSP00000417901.1",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 769,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "NM_020806.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Ala302Asp",
"transcript": "ENST00000315266.9",
"protein_id": "ENSP00000312771.5",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 736,
"cds_start": 905,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1064C>A",
"hgvs_p": "p.Ala355Asp",
"transcript": "NM_001377514.1",
"protein_id": "NP_001364443.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 789,
"cds_start": 1064,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1043C>A",
"hgvs_p": "p.Ala348Asp",
"transcript": "ENST00000543237.5",
"protein_id": "ENSP00000438404.1",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 782,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1034C>A",
"hgvs_p": "p.Ala345Asp",
"transcript": "NM_001377515.1",
"protein_id": "NP_001364444.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 779,
"cds_start": 1034,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Ala342Asp",
"transcript": "NM_001377516.1",
"protein_id": "NP_001364445.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 776,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.977C>A",
"hgvs_p": "p.Ala326Asp",
"transcript": "NM_001377517.1",
"protein_id": "NP_001364446.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 760,
"cds_start": 977,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.962C>A",
"hgvs_p": "p.Ala321Asp",
"transcript": "NM_001377518.1",
"protein_id": "NP_001364447.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 755,
"cds_start": 962,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.944C>A",
"hgvs_p": "p.Ala315Asp",
"transcript": "NM_001377519.1",
"protein_id": "NP_001364448.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 749,
"cds_start": 944,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Ala302Asp",
"transcript": "NM_001024218.2",
"protein_id": "NP_001019389.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 736,
"cds_start": 905,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.950C>A",
"hgvs_p": "p.Ala317Asp",
"transcript": "ENST00000459628.5",
"protein_id": "ENSP00000452220.1",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 380,
"cds_start": 950,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.761C>A",
"hgvs_p": "p.Ala254Asp",
"transcript": "ENST00000555456.1",
"protein_id": "ENSP00000450706.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 279,
"cds_start": 761,
"cds_end": null,
"cds_length": 841,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1172C>A",
"hgvs_p": "p.Ala391Asp",
"transcript": "XM_011536340.4",
"protein_id": "XP_011534642.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 825,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1163C>A",
"hgvs_p": "p.Ala388Asp",
"transcript": "XM_017020913.3",
"protein_id": "XP_016876402.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 822,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1133C>A",
"hgvs_p": "p.Ala378Asp",
"transcript": "XM_011536342.4",
"protein_id": "XP_011534644.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 812,
"cds_start": 1133,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1115C>A",
"hgvs_p": "p.Ala372Asp",
"transcript": "XM_017020914.3",
"protein_id": "XP_016876403.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 806,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1100C>A",
"hgvs_p": "p.Ala367Asp",
"transcript": "XM_011536343.4",
"protein_id": "XP_011534645.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 801,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1076C>A",
"hgvs_p": "p.Ala359Asp",
"transcript": "XM_047430875.1",
"protein_id": "XP_047286831.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 793,
"cds_start": 1076,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1073C>A",
"hgvs_p": "p.Ala358Asp",
"transcript": "XM_011536344.4",
"protein_id": "XP_011534646.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 792,
"cds_start": 1073,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1061C>A",
"hgvs_p": "p.Ala354Asp",
"transcript": "XM_047430876.1",
"protein_id": "XP_047286832.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 788,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1043C>A",
"hgvs_p": "p.Ala348Asp",
"transcript": "XM_011536345.4",
"protein_id": "XP_011534647.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 782,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3596,
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{
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{
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},
{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "GPHN",
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}
],
"gene_symbol": "GPHN",
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"dbsnp": "rs1555466432",
"frequency_reference_population": 6.8519245e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85192e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5467705726623535,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7879999876022339,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3854,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.233,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.899548058101298,
"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",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000478722.6",
"gene_symbol": "GPHN",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1004C>A",
"hgvs_p": "p.Ala335Asp"
}
],
"clinvar_disease": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}