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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: 3-123700816-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123700816&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123700816,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_053025.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "NM_053025.4",
"protein_id": "NP_444253.3",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "ENST00000360304.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053025.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000360304.8",
"protein_id": "ENSP00000353452.3",
"transcript_support_level": 5,
"aa_start": 884,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "NM_053025.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360304.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.261G>A",
"hgvs_p": "p.Glu87Glu",
"transcript": "ENST00000504946.6",
"protein_id": "ENSP00000510315.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 461,
"cds_start": 261,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504946.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.*2231G>A",
"hgvs_p": null,
"transcript": "ENST00000464489.5",
"protein_id": "ENSP00000417798.1",
"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": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464489.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.*2231G>A",
"hgvs_p": null,
"transcript": "ENST00000464489.5",
"protein_id": "ENSP00000417798.1",
"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": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464489.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2682G>A",
"hgvs_p": "p.Glu894Glu",
"transcript": "ENST00000687848.1",
"protein_id": "ENSP00000508761.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1924,
"cds_start": 2682,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687848.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000686761.1",
"protein_id": "ENSP00000508758.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686761.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000971487.1",
"protein_id": "ENSP00000641546.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 6117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971487.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000971488.1",
"protein_id": "ENSP00000641547.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971488.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000971489.1",
"protein_id": "ENSP00000641548.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 8025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971489.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000971490.1",
"protein_id": "ENSP00000641549.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1914,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 2853,
"cdna_end": null,
"cdna_length": 6005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971490.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000686406.1",
"protein_id": "ENSP00000509044.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1913,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5742,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686406.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "NM_053027.4",
"protein_id": "NP_444255.3",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1863,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053027.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu",
"transcript": "ENST00000360772.7",
"protein_id": "ENSP00000354004.3",
"transcript_support_level": 5,
"aa_start": 884,
"aa_end": null,
"aa_length": 1863,
"cds_start": 2652,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 3031,
"cdna_end": null,
"cdna_length": 10027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360772.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Glu815Glu",
"transcript": "NM_053026.4",
"protein_id": "NP_444254.3",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1845,
"cds_start": 2445,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 9906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053026.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Glu815Glu",
"transcript": "ENST00000693689.1",
"protein_id": "ENSP00000510503.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1845,
"cds_start": 2445,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 2739,
"cdna_end": null,
"cdna_length": 7398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693689.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Glu815Glu",
"transcript": "NM_053028.4",
"protein_id": "NP_444256.3",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 1794,
"cds_start": 2445,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 9753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053028.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Glu815Glu",
"transcript": "ENST00000346322.10",
"protein_id": "ENSP00000320622.6",
"transcript_support_level": 5,
"aa_start": 815,
"aa_end": null,
"aa_length": 1794,
"cds_start": 2445,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346322.10"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.2124G>A",
"hgvs_p": "p.Glu708Glu",
"transcript": "NM_001321309.2",
"protein_id": "NP_001308238.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1738,
"cds_start": 2124,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321309.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1890G>A",
"hgvs_p": "p.Glu630Glu",
"transcript": "ENST00000690457.1",
"protein_id": "ENSP00000508777.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 1660,
"cds_start": 1890,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690457.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.189G>A",
"hgvs_p": "p.Glu63Glu",
"transcript": "ENST00000692352.1",
"protein_id": "ENSP00000510737.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 719,
"cds_start": 189,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692352.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.189G>A",
"hgvs_p": "p.Glu63Glu",
"transcript": "ENST00000689227.1",
"protein_id": "ENSP00000508857.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 440,
"cds_start": 189,
"cds_end": null,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.47,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_053025.4",
"gene_symbol": "MYLK",
"hgnc_id": 7590,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.2652G>A",
"hgvs_p": "p.Glu884Glu"
},
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000715826.1",
"gene_symbol": "MYLK-AS1",
"hgnc_id": 42440,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.710-3050C>T",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_924417.4",
"gene_symbol": "LOC105369194",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.108-3050C>T",
"hgvs_p": null
}
],
"clinvar_disease": " familial thoracic 7,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection,MYLK-related disorder,Megacystis-microcolon-intestinal hypoperistalsis syndrome 1",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7|MYLK-related disorder|Megacystis-microcolon-intestinal hypoperistalsis syndrome 1;Aortic aneurysm, familial thoracic 7",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}