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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: 8-132825369-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132825369&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132825369,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001438309.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1742A>T",
"hgvs_p": "p.His581Leu",
"transcript": "NM_016018.5",
"protein_id": "NP_057102.4",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1742,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395386.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016018.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1742A>T",
"hgvs_p": "p.His581Leu",
"transcript": "ENST00000395386.7",
"protein_id": "ENSP00000378784.2",
"transcript_support_level": 5,
"aa_start": 581,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1742,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395386.7"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1757A>T",
"hgvs_p": "p.His586Leu",
"transcript": "ENST00000939789.1",
"protein_id": "ENSP00000609848.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1757,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939789.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1757A>T",
"hgvs_p": "p.His586Leu",
"transcript": "NM_001438309.1",
"protein_id": "NP_001425238.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1757,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438309.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1754A>T",
"hgvs_p": "p.His585Leu",
"transcript": "NM_001438310.1",
"protein_id": "NP_001425239.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1754,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438310.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1754A>T",
"hgvs_p": "p.His585Leu",
"transcript": "ENST00000905699.1",
"protein_id": "ENSP00000575758.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1754,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905699.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1754A>T",
"hgvs_p": "p.His585Leu",
"transcript": "ENST00000972151.1",
"protein_id": "ENSP00000642210.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1754,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972151.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1745A>T",
"hgvs_p": "p.His582Leu",
"transcript": "NM_001438311.1",
"protein_id": "NP_001425240.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438311.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1745A>T",
"hgvs_p": "p.His582Leu",
"transcript": "ENST00000939786.1",
"protein_id": "ENSP00000609845.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939786.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1742A>T",
"hgvs_p": "p.His581Leu",
"transcript": "ENST00000939787.1",
"protein_id": "ENSP00000609846.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1742,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939787.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1745A>T",
"hgvs_p": "p.His582Leu",
"transcript": "ENST00000972150.1",
"protein_id": "ENSP00000642209.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1745,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972150.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1742A>T",
"hgvs_p": "p.His581Leu",
"transcript": "ENST00000622263.4",
"protein_id": "ENSP00000482945.1",
"transcript_support_level": 5,
"aa_start": 581,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1742,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622263.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1676A>T",
"hgvs_p": "p.His559Leu",
"transcript": "ENST00000972152.1",
"protein_id": "ENSP00000642211.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 995,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972152.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.His556Leu",
"transcript": "NM_001438312.1",
"protein_id": "NP_001425241.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 993,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438312.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.His556Leu",
"transcript": "ENST00000939788.1",
"protein_id": "ENSP00000609847.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 993,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939788.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.His556Leu",
"transcript": "ENST00000939790.1",
"protein_id": "ENSP00000609849.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 993,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939790.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1664A>T",
"hgvs_p": "p.His555Leu",
"transcript": "NM_001438313.1",
"protein_id": "NP_001425242.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 992,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438313.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.His556Leu",
"transcript": "ENST00000395390.6",
"protein_id": "ENSP00000378788.2",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 992,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395390.6"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1667A>T",
"hgvs_p": "p.His556Leu",
"transcript": "ENST00000905700.1",
"protein_id": "ENSP00000575759.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 992,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905700.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1664A>T",
"hgvs_p": "p.His555Leu",
"transcript": "ENST00000939785.1",
"protein_id": "ENSP00000609844.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 992,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939785.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1664A>T",
"hgvs_p": "p.His555Leu",
"transcript": "ENST00000972149.1",
"protein_id": "ENSP00000642208.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 992,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972149.1"
},
{
"aa_ref": "H",
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{
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{
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"feature": "ENST00000315808.14"
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{
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{
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{
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{
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{
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{
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],
"gene_symbol": "PHF20L1",
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"dbsnp": "rs771267278",
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08730265498161316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0915,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.29,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438309.1",
"gene_symbol": "PHF20L1",
"hgnc_id": 24280,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1757A>T",
"hgvs_p": "p.His586Leu"
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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
}