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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: 6-31952140-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31952140&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31952140,
"ref": "T",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000375429.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "NM_002904.6",
"protein_id": "NP_002895.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": "ENST00000375429.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "ENST00000375429.8",
"protein_id": "ENSP00000364578.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": "NM_002904.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "XM_047419354.1",
"protein_id": "XP_047275310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "XM_047419355.1",
"protein_id": "XP_047275311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "XM_006715205.4",
"protein_id": "XP_006715268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "XM_047419356.1",
"protein_id": "XP_047275312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "XM_011514913.4",
"protein_id": "XP_011513215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>A",
"hgvs_p": null,
"transcript": "NM_001710.6",
"protein_id": "NP_001701.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "ENST00000425368.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.*110T>A",
"hgvs_p": null,
"transcript": "ENST00000425368.7",
"protein_id": "ENSP00000416561.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "NM_001710.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.*110T>A",
"hgvs_p": null,
"transcript": "ENST00000456570.5",
"protein_id": "ENSP00000410815.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1266,
"cds_start": -4,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
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"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.*110T>A",
"hgvs_p": null,
"transcript": "ENST00000477310.1",
"protein_id": "ENSP00000418996.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 1115,
"cds_start": -4,
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"cds_length": 3348,
"cdna_start": null,
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"cdna_length": 3377,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "CFB",
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"hgvs_c": "c.*110T>A",
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"transcript": "ENST00000483004.2",
"protein_id": "ENSP00000419887.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "CFB",
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"hgvs_c": "c.*110T>A",
"hgvs_p": null,
"transcript": "ENST00000698628.1",
"protein_id": "ENSP00000513848.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "NELFE",
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"hgvs_c": "c.*161A>T",
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"transcript": "ENST00000375425.9",
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},
{
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],
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"gene_symbol": "NELFE",
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"hgvs_c": "c.*161A>T",
"hgvs_p": null,
"transcript": "ENST00000444811.6",
"protein_id": "ENSP00000388400.2",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "CFB",
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"hgvs_c": "n.*70T>A",
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"transcript": "ENST00000452035.7",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "NELFE",
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"hgvs_c": "n.*88A>T",
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"transcript": "ENST00000481121.5",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "CFB",
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"hgvs_c": "n.*56T>A",
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"transcript": "ENST00000482312.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "NELFE",
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"hgvs_c": "n.*88A>T",
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"transcript": "ENST00000488426.5",
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},
{
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],
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},
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],
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"intron_rank": null,
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CFB",
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"hgvs_c": "n.*70T>A",
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"transcript": "ENST00000698629.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "n.*85T>A",
"hgvs_p": null,
"transcript": "ENST00000698630.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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},
{
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}
],
"gene_symbol": "NELFE",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -2,
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000375429.8",
"gene_symbol": "NELFE",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.*161A>T",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000425368.7",
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"effects": [
"downstream_gene_variant"
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"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.*110T>A",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000456570.5",
"gene_symbol": "ENSG00000244255",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*110T>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}