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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: 3-123612475-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123612475&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123612475,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "NM_053025.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_053025.4",
"protein_id": "NP_444253.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": null,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360304.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053025.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000360304.8",
"protein_id": "ENSP00000353452.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": null,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053025.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360304.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000418370.6",
"protein_id": "ENSP00000428967.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418370.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYLK-AS1",
"gene_hgnc_id": 42440,
"hgvs_c": "n.274-17019C>T",
"hgvs_p": null,
"transcript": "ENST00000470449.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470449.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000971489.1",
"protein_id": "ENSP00000641548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": null,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_053027.4",
"protein_id": "NP_444255.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1863,
"cds_start": null,
"cds_end": null,
"cds_length": 5592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053027.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000360772.7",
"protein_id": "ENSP00000354004.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1863,
"cds_start": null,
"cds_end": null,
"cds_length": 5592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360772.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_053026.4",
"protein_id": "NP_444254.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1845,
"cds_start": null,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053026.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_053028.4",
"protein_id": "NP_444256.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1794,
"cds_start": null,
"cds_end": null,
"cds_length": 5385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053028.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_001321309.2",
"protein_id": "NP_001308238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1738,
"cds_start": null,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321309.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000685021.1",
"protein_id": "ENSP00000508447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 992,
"cds_start": null,
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"cds_length": 2979,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685021.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000688024.1",
"protein_id": "ENSP00000509803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": null,
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"cds_length": 2976,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688024.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000688223.1",
"protein_id": "ENSP00000508935.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 924,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688223.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_053032.4",
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"feature": "NM_053032.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_001438035.1",
"protein_id": "NP_001424964.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 153,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438035.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "NM_053031.4",
"protein_id": "NP_444259.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053031.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "ENST00000685744.1",
"protein_id": "ENSP00000510047.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000685744.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "XM_024453532.2",
"protein_id": "XP_024309300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1924,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_024453532.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "XM_047448183.1",
"protein_id": "XP_047304139.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "XM_047448187.1",
"protein_id": "XP_047304143.1",
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"biotype": "protein_coding",
"feature": "XM_047448187.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "XM_011512860.4",
"protein_id": "XP_011511162.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1923,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512860.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.*1630G>A",
"hgvs_p": null,
"transcript": "XM_024453537.2",
"protein_id": "XP_024309305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453537.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
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"gene_symbol": "MYLK-AS1",
"gene_hgnc_id": 42440,
"hgvs_c": "n.*137C>T",
"hgvs_p": null,
"transcript": "ENST00000756566.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000756566.1"
}
],
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"dbsnp": "rs886057839",
"frequency_reference_population": 0.000032847627,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000328476,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.163,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_053025.4",
"gene_symbol": "MYLK",
"hgnc_id": 7590,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*1630G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000657993.2",
"gene_symbol": "MYLK-AS1",
"hgnc_id": 42440,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.667C>T",
"hgvs_p": null
}
],
"clinvar_disease": " familial thoracic 7,Aortic aneurysm",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Aortic aneurysm, familial thoracic 7",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}