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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: 3-123638190-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123638190&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYLK",
"hgnc_id": 7590,
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_053025.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYLK-AS1",
"hgnc_id": 42440,
"hgvs_c": "n.523-6314A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000485162.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.4771,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " familial thoracic 7,Aortic aneurysm,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6224053502082825,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10113,
"cdna_start": 5154,
"cds_end": null,
"cds_length": 5745,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_053025.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360304.8",
"protein_coding": true,
"protein_id": "NP_444253.3",
"strand": false,
"transcript": "NM_053025.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10113,
"cdna_start": 5154,
"cds_end": null,
"cds_length": 5745,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000360304.8",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_053025.4",
"protein_coding": true,
"protein_id": "ENSP00000353452.3",
"strand": false,
"transcript": "ENST00000360304.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000464489.5",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "n.*4421T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417798.1",
"strand": false,
"transcript": "ENST00000464489.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000464489.5",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "n.*4421T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417798.1",
"strand": false,
"transcript": "ENST00000464489.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1924,
"aa_ref": "N",
"aa_start": 1624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5956,
"cdna_start": 5034,
"cds_end": null,
"cds_length": 5775,
"cds_start": 4872,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000687848.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4872T>A",
"hgvs_p": "p.Asn1624Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508761.1",
"strand": false,
"transcript": "ENST00000687848.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6162,
"cdna_start": 5201,
"cds_end": null,
"cds_length": 5745,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000686761.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508758.1",
"strand": false,
"transcript": "ENST00000686761.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6117,
"cdna_start": 5138,
"cds_end": null,
"cds_length": 5745,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000971487.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641546.1",
"strand": false,
"transcript": "ENST00000971487.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 5062,
"cds_end": null,
"cds_length": 5745,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000971488.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641547.1",
"strand": false,
"transcript": "ENST00000971488.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8025,
"cdna_start": 5313,
"cds_end": null,
"cds_length": 5745,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000971489.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641548.1",
"strand": false,
"transcript": "ENST00000971489.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6005,
"cdna_start": 5043,
"cds_end": null,
"cds_length": 5745,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000971490.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641549.1",
"strand": false,
"transcript": "ENST00000971490.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1913,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5783,
"cdna_start": 4845,
"cds_end": null,
"cds_length": 5742,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000686406.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509044.1",
"strand": false,
"transcript": "ENST00000686406.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1863,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9960,
"cdna_start": 5154,
"cds_end": null,
"cds_length": 5592,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_053027.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444255.3",
"strand": false,
"transcript": "NM_053027.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1863,
"aa_ref": "N",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10027,
"cdna_start": 5221,
"cds_end": null,
"cds_length": 5592,
"cds_start": 4842,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000360772.7",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4842T>A",
"hgvs_p": "p.Asn1614Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354004.3",
"strand": false,
"transcript": "ENST00000360772.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1845,
"aa_ref": "N",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9906,
"cdna_start": 4947,
"cds_end": null,
"cds_length": 5538,
"cds_start": 4635,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_053026.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4635T>A",
"hgvs_p": "p.Asn1545Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444254.3",
"strand": false,
"transcript": "NM_053026.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1845,
"aa_ref": "N",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7398,
"cdna_start": 4929,
"cds_end": null,
"cds_length": 5538,
"cds_start": 4635,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000693689.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4635T>A",
"hgvs_p": "p.Asn1545Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510503.1",
"strand": false,
"transcript": "ENST00000693689.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1794,
"aa_ref": "N",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9753,
"cdna_start": 4947,
"cds_end": null,
"cds_length": 5385,
"cds_start": 4635,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_053028.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4635T>A",
"hgvs_p": "p.Asn1545Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444256.3",
"strand": false,
"transcript": "NM_053028.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1794,
"aa_ref": "N",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 4754,
"cds_end": null,
"cds_length": 5385,
"cds_start": 4635,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000346322.10",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4635T>A",
"hgvs_p": "p.Asn1545Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320622.6",
"strand": false,
"transcript": "ENST00000346322.10",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "N",
"aa_start": 1438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9905,
"cdna_start": 4946,
"cds_end": null,
"cds_length": 5217,
"cds_start": 4314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001321309.2",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4314T>A",
"hgvs_p": "p.Asn1438Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308238.1",
"strand": false,
"transcript": "NM_001321309.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1660,
"aa_ref": "N",
"aa_start": 1360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5130,
"cdna_start": 4177,
"cds_end": null,
"cds_length": 4983,
"cds_start": 4080,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000690457.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.4080T>A",
"hgvs_p": "p.Asn1360Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508777.1",
"strand": false,
"transcript": "ENST00000690457.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 992,
"aa_ref": "N",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5278,
"cdna_start": 2573,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2076,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000685021.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.2076T>A",
"hgvs_p": "p.Asn692Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508447.1",
"strand": false,
"transcript": "ENST00000685021.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
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