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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: X-85247586-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85247586&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85247586,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330574.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001330574.2",
"protein_id": "NP_001317503.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "ENST00000674551.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "ENST00000674551.1",
"protein_id": "ENSP00000502839.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "NM_001330574.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "ENST00000360700.4",
"protein_id": "ENSP00000353922.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "ENST00000276123.7",
"protein_id": "ENSP00000276123.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 761,
"cds_start": 14,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "ENST00000373165.7",
"protein_id": "ENSP00000362260.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 761,
"cds_start": 14,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001375431.1",
"protein_id": "NP_001362360.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001375432.1",
"protein_id": "NP_001362361.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001375433.1",
"protein_id": "NP_001362362.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001375434.1",
"protein_id": "NP_001362363.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 761,
"cds_start": 14,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001375435.1",
"protein_id": "NP_001362364.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 761,
"cds_start": 14,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001375436.1",
"protein_id": "NP_001362365.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 761,
"cds_start": 14,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_001375437.1",
"protein_id": "NP_001362366.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 761,
"cds_start": 14,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "NM_021998.5",
"protein_id": "NP_068838.3",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 761,
"cds_start": 14,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_011531019.2",
"protein_id": "XP_011529321.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 811,
"cds_start": 14,
"cds_end": null,
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"cdna_start": 978,
"cdna_end": null,
"cdna_length": 4929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_011531020.2",
"protein_id": "XP_011529322.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 811,
"cds_start": 14,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_011531021.2",
"protein_id": "XP_011529323.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
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"cdna_start": 620,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_011531022.2",
"protein_id": "XP_011529324.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 811,
"cds_start": 14,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_011531023.4",
"protein_id": "XP_011529325.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 811,
"cds_start": 14,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_047442462.1",
"protein_id": "XP_047298418.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 811,
"cds_start": 14,
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"cdna_start": 241,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_005262187.2",
"protein_id": "XP_005262244.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
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"cds_start": 14,
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"cdna_start": 504,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_005262188.2",
"protein_id": "XP_005262245.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
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"cdna_start": 361,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_047442464.1",
"protein_id": "XP_047298420.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 807,
"cds_start": 14,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.14G>A",
"hgvs_p": "p.Gly5Asp",
"transcript": "XM_047442465.1",
"protein_id": "XP_047298421.1",
"transcript_support_level": null,
"aa_start": 5,
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}
],
"gene_symbol": "ZNF711",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2852073907852173,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.961,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330574.2",
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"effects": [
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],
"inheritance_mode": "XL",
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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
}