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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: 4-158708445-CAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158708445&ref=CAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158708445,
"ref": "CAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000511912.6",
"consequences": [
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1773_1774delAT",
"hgvs_p": "p.Cys592fs",
"transcript": "NM_004453.4",
"protein_id": "NP_004444.2",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 617,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": "ENST00000511912.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1773_1774delAT",
"hgvs_p": "p.Cys592fs",
"transcript": "ENST00000511912.6",
"protein_id": "ENSP00000426638.1",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 617,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1934,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.743_744delAT",
"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": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1722_1723delAT",
"hgvs_p": "p.Cys575fs",
"transcript": "ENST00000684505.1",
"protein_id": "ENSP00000508237.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 600,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1632_1633delAT",
"hgvs_p": "p.Cys545fs",
"transcript": "NM_001281737.2",
"protein_id": "NP_001268666.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 570,
"cds_start": 1632,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1632_1633delAT",
"hgvs_p": "p.Cys545fs",
"transcript": "ENST00000307738.5",
"protein_id": "ENSP00000303552.5",
"transcript_support_level": 2,
"aa_start": 544,
"aa_end": null,
"aa_length": 570,
"cds_start": 1632,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1632_1633delAT",
"hgvs_p": "p.Cys545fs",
"transcript": "ENST00000682456.1",
"protein_id": "ENSP00000508240.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 570,
"cds_start": 1632,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1629_1630delAT",
"hgvs_p": "p.Cys544fs",
"transcript": "ENST00000683483.1",
"protein_id": "ENSP00000507719.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 569,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1590_1591delAT",
"hgvs_p": "p.Cys531fs",
"transcript": "NM_001281738.1",
"protein_id": "NP_001268667.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 556,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1590_1591delAT",
"hgvs_p": "p.Cys531fs",
"transcript": "ENST00000683305.1",
"protein_id": "ENSP00000508043.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 556,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1590_1591delAT",
"hgvs_p": "p.Cys531fs",
"transcript": "ENST00000684036.1",
"protein_id": "ENSP00000507276.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 556,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1590_1591delAT",
"hgvs_p": "p.Cys531fs",
"transcript": "ENST00000684627.1",
"protein_id": "ENSP00000507471.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 556,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1488_1489delAT",
"hgvs_p": "p.Cys497fs",
"transcript": "ENST00000684641.1",
"protein_id": "ENSP00000507642.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 522,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.1278_1279delAT",
"hgvs_p": "p.Cys427fs",
"transcript": "ENST00000683751.1",
"protein_id": "ENSP00000506944.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 452,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.600_601delAT",
"hgvs_p": "p.Cys201fs",
"transcript": "ENST00000682734.1",
"protein_id": "ENSP00000507860.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 226,
"cds_start": 600,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "c.600_601delAT",
"hgvs_p": "p.Cys201fs",
"transcript": "ENST00000684129.1",
"protein_id": "ENSP00000507174.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 226,
"cds_start": 600,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1453,
"cdna_end": null,
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"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.3309_3310delAT",
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2805_2806delAT",
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.*1473_*1474delAT",
"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,
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"cdna_start": null,
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"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2104_2105delAT",
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2556_2557delAT",
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.2085_2086delAT",
"hgvs_p": null,
"transcript": "ENST00000682613.1",
"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": 4355,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"hgvs_c": "n.1810_1811delAT",
"hgvs_p": null,
"transcript": "ENST00000682820.1",
"protein_id": null,
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"protein_id": "ENSP00000506934.1",
"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": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETFDH",
"gene_hgnc_id": 3483,
"dbsnp": "rs767795266",
"frequency_reference_population": 0.0000062110103,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000411535,
"gnomad_genomes_af": 0.0000263006,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.014,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000511912.6",
"gene_symbol": "ETFDH",
"hgnc_id": 3483,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1773_1774delAT",
"hgvs_p": "p.Cys592fs"
}
],
"clinvar_disease": "Multiple acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2",
"phenotype_combined": "not provided|Multiple acyl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}