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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: 8-105802583-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=105802583&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 105802583,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000407775.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Lys834Arg",
"transcript": "NM_012082.4",
"protein_id": "NP_036214.2",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2501,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3005,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "ENST00000407775.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Lys834Arg",
"transcript": "ENST00000407775.7",
"protein_id": "ENSP00000384179.2",
"transcript_support_level": 1,
"aa_start": 834,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2501,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3005,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "NM_012082.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2342A>G",
"hgvs_p": "p.Lys781Arg",
"transcript": "NM_001362836.2",
"protein_id": "NP_001349765.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2342,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "NM_001362837.2",
"protein_id": "NP_001349766.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "ENST00000517361.1",
"protein_id": "ENSP00000428720.1",
"transcript_support_level": 2,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "ENST00000520492.5",
"protein_id": "ENSP00000430757.1",
"transcript_support_level": 2,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2234A>G",
"hgvs_p": "p.Lys745Arg",
"transcript": "XM_047421627.1",
"protein_id": "XP_047277583.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "XM_047421628.1",
"protein_id": "XP_047277584.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 11002,
"cdna_end": null,
"cdna_length": 12958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "XM_047421629.1",
"protein_id": "XP_047277585.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 9841,
"cdna_end": null,
"cdna_length": 11797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "XM_047421630.1",
"protein_id": "XP_047277586.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 11023,
"cdna_end": null,
"cdna_length": 12979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "XM_047421632.1",
"protein_id": "XP_047277588.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 7231,
"cdna_end": null,
"cdna_length": 9187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "XM_047421633.1",
"protein_id": "XP_047277589.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "XM_047421634.1",
"protein_id": "XP_047277590.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFPM2",
"gene_hgnc_id": 16700,
"hgvs_c": "n.2295A>G",
"hgvs_p": null,
"transcript": "ENST00000522296.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.140-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000509144.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.66-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000518932.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.149-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000520078.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.212-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000520433.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.155-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000520594.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.279-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000521622.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.154-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000524045.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.69-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000659633.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZFPM2-AS1",
"gene_hgnc_id": 50698,
"hgvs_c": "n.184-4141T>C",
"hgvs_p": null,
"transcript": "ENST00000821409.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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{
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{
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{
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}
],
"gene_symbol": "ZFPM2",
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"dbsnp": "rs113289249",
"frequency_reference_population": 0.00039977455,
"hom_count_reference_population": 1,
"allele_count_reference_population": 644,
"gnomad_exomes_af": 0.000211843,
"gnomad_genomes_af": 0.00219989,
"gnomad_exomes_ac": 309,
"gnomad_genomes_ac": 335,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010341048240661621,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.718,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000407775.7",
"gene_symbol": "ZFPM2",
"hgnc_id": 16700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Lys834Arg"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000518932.5",
"gene_symbol": "ZFPM2-AS1",
"hgnc_id": 50698,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.66-4141T>C",
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}
],
"clinvar_disease": "46,XY sex reversal 9,ZFPM2-related disorder,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "46,XY sex reversal 9|ZFPM2-related disorder|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}