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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: 4-158703540-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158703540&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158703540,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000511912.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Glu412Gln",
"transcript": "NM_004453.4",
"protein_id": "NP_004444.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 617,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "ENST00000511912.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Glu412Gln",
"transcript": "ENST00000511912.6",
"protein_id": "ENSP00000426638.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 617,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "NM_004453.4",
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.204G>C",
"hgvs_p": null,
"transcript": "ENST00000506422.1",
"protein_id": null,
"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": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Glu412Gln",
"transcript": "ENST00000684622.1",
"protein_id": "ENSP00000507546.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 618,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Glu395Gln",
"transcript": "ENST00000684505.1",
"protein_id": "ENSP00000508237.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 600,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Glu365Gln",
"transcript": "NM_001281737.2",
"protein_id": "NP_001268666.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 570,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Glu365Gln",
"transcript": "ENST00000307738.5",
"protein_id": "ENSP00000303552.5",
"transcript_support_level": 2,
"aa_start": 365,
"aa_end": null,
"aa_length": 570,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Glu365Gln",
"transcript": "ENST00000682456.1",
"protein_id": "ENSP00000508240.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 570,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1090G>C",
"hgvs_p": "p.Glu364Gln",
"transcript": "ENST00000683483.1",
"protein_id": "ENSP00000507719.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 569,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"transcript": "NM_001281738.1",
"protein_id": "NP_001268667.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 556,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"transcript": "ENST00000683305.1",
"protein_id": "ENSP00000508043.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 556,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"transcript": "ENST00000684036.1",
"protein_id": "ENSP00000507276.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 556,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"transcript": "ENST00000684627.1",
"protein_id": "ENSP00000507471.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 556,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Glu317Gln",
"transcript": "ENST00000684641.1",
"protein_id": "ENSP00000507642.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 522,
"cds_start": 949,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Glu247Gln",
"transcript": "ENST00000683751.1",
"protein_id": "ENSP00000506944.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 452,
"cds_start": 739,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Glu21Gln",
"transcript": "ENST00000682734.1",
"protein_id": "ENSP00000507860.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 226,
"cds_start": 61,
"cds_end": null,
"cds_length": 681,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.61G>C",
"hgvs_p": "p.Glu21Gln",
"transcript": "ENST00000684129.1",
"protein_id": "ENSP00000507174.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 226,
"cds_start": 61,
"cds_end": null,
"cds_length": 681,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3723,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2770G>C",
"hgvs_p": null,
"transcript": "ENST00000681978.1",
"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": 5579,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2266G>C",
"hgvs_p": null,
"transcript": "ENST00000682178.1",
"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": 5077,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.*934G>C",
"hgvs_p": null,
"transcript": "ENST00000682345.1",
"protein_id": "ENSP00000508122.1",
"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": 4197,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.1565G>C",
"hgvs_p": null,
"transcript": "ENST00000682452.1",
"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": 4399,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2017G>C",
"hgvs_p": null,
"transcript": "ENST00000682566.1",
"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": 4826,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.1546G>C",
"hgvs_p": null,
"transcript": "ENST00000682613.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"dbsnp": "rs398124151",
"frequency_reference_population": 6.8625417e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86254e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7568936944007874,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.782,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.144,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.002,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000511912.6",
"gene_symbol": "ETFDH",
"hgnc_id": 3483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Glu412Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}