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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: 10-14522001-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14522001&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 14522001,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000181796.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Asn224Lys",
"transcript": "NM_031453.4",
"protein_id": "NP_113641.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 306,
"cds_start": 672,
"cds_end": null,
"cds_length": 921,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": "ENST00000181796.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Asn224Lys",
"transcript": "ENST00000181796.7",
"protein_id": "ENSP00000181796.2",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 306,
"cds_start": 672,
"cds_end": null,
"cds_length": 921,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": "NM_031453.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "ENST00000378467.8",
"protein_id": "ENSP00000367728.4",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "ENST00000378470.5",
"protein_id": "ENSP00000367731.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "ENST00000468747.5",
"protein_id": "ENSP00000418120.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "n.*255C>A",
"hgvs_p": null,
"transcript": "ENST00000487335.5",
"protein_id": "ENSP00000420273.1",
"transcript_support_level": 1,
"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": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "n.*255C>A",
"hgvs_p": null,
"transcript": "ENST00000487335.5",
"protein_id": "ENSP00000420273.1",
"transcript_support_level": 1,
"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": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.264C>A",
"hgvs_p": "p.Asn88Lys",
"transcript": "NM_001320741.2",
"protein_id": "NP_001307670.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 170,
"cds_start": 264,
"cds_end": null,
"cds_length": 513,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282695.2",
"protein_id": "NP_001269624.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282696.2",
"protein_id": "NP_001269625.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282697.2",
"protein_id": "NP_001269626.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282698.2",
"protein_id": "NP_001269627.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282699.1",
"protein_id": "NP_001269628.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282700.2",
"protein_id": "NP_001269629.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282701.2",
"protein_id": "NP_001269630.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282702.2",
"protein_id": "NP_001269631.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001282703.1",
"protein_id": "NP_001269632.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001320735.2",
"protein_id": "NP_001307664.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001320736.2",
"protein_id": "NP_001307665.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001320737.1",
"protein_id": "NP_001307666.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001320738.2",
"protein_id": "NP_001307667.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001320739.2",
"protein_id": "NP_001307668.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 131,
"cds_start": 147,
"cds_end": null,
"cds_length": 396,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM107B",
"gene_hgnc_id": 23726,
"hgvs_c": "c.147C>A",
"hgvs_p": "p.Asn49Lys",
"transcript": "NM_001320740.1",
"protein_id": "NP_001307669.1",
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},
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}
],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.052,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}