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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: 3-123700393-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123700393&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123700393,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000360304.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"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.3075C>T",
"hgvs_p": "p.Pro1025Pro",
"transcript": "NM_053025.4",
"protein_id": "NP_444253.3",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1914,
"cds_start": 3075,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "ENST00000360304.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3075C>T",
"hgvs_p": "p.Pro1025Pro",
"transcript": "ENST00000360304.8",
"protein_id": "ENSP00000353452.3",
"transcript_support_level": 5,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1914,
"cds_start": 3075,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "NM_053025.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.684C>T",
"hgvs_p": "p.Pro228Pro",
"transcript": "ENST00000504946.6",
"protein_id": "ENSP00000510315.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 461,
"cds_start": 684,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*2654C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*2654C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3105C>T",
"hgvs_p": "p.Pro1035Pro",
"transcript": "ENST00000687848.1",
"protein_id": "ENSP00000508761.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1924,
"cds_start": 3105,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 3267,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3075C>T",
"hgvs_p": "p.Pro1025Pro",
"transcript": "ENST00000686761.1",
"protein_id": "ENSP00000508758.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1914,
"cds_start": 3075,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 3434,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3075C>T",
"hgvs_p": "p.Pro1025Pro",
"transcript": "ENST00000686406.1",
"protein_id": "ENSP00000509044.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1913,
"cds_start": 3075,
"cds_end": null,
"cds_length": 5742,
"cdna_start": 3078,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3075C>T",
"hgvs_p": "p.Pro1025Pro",
"transcript": "NM_053027.4",
"protein_id": "NP_444255.3",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1863,
"cds_start": 3075,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3075C>T",
"hgvs_p": "p.Pro1025Pro",
"transcript": "ENST00000360772.7",
"protein_id": "ENSP00000354004.3",
"transcript_support_level": 5,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1863,
"cds_start": 3075,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 3454,
"cdna_end": null,
"cdna_length": 10027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2868C>T",
"hgvs_p": "p.Pro956Pro",
"transcript": "NM_053026.4",
"protein_id": "NP_444254.3",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1845,
"cds_start": 2868,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 9906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2868C>T",
"hgvs_p": "p.Pro956Pro",
"transcript": "ENST00000693689.1",
"protein_id": "ENSP00000510503.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1845,
"cds_start": 2868,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 7398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2868C>T",
"hgvs_p": "p.Pro956Pro",
"transcript": "NM_053028.4",
"protein_id": "NP_444256.3",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1794,
"cds_start": 2868,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 9753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2868C>T",
"hgvs_p": "p.Pro956Pro",
"transcript": "ENST00000346322.10",
"protein_id": "ENSP00000320622.6",
"transcript_support_level": 5,
"aa_start": 956,
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"cds_start": 2868,
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"cdna_start": 2987,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2547C>T",
"hgvs_p": "p.Pro849Pro",
"transcript": "NM_001321309.2",
"protein_id": "NP_001308238.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1738,
"cds_start": 2547,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.2313C>T",
"hgvs_p": "p.Pro771Pro",
"transcript": "ENST00000690457.1",
"protein_id": "ENSP00000508777.1",
"transcript_support_level": null,
"aa_start": 771,
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"aa_length": 1660,
"cds_start": 2313,
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"cdna_start": 2410,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.309C>T",
"hgvs_p": "p.Pro103Pro",
"transcript": "ENST00000685021.1",
"protein_id": "ENSP00000508447.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 992,
"cds_start": 309,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.309C>T",
"hgvs_p": "p.Pro103Pro",
"transcript": "ENST00000688024.1",
"protein_id": "ENSP00000509803.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 991,
"cds_start": 309,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.309C>T",
"hgvs_p": "p.Pro103Pro",
"transcript": "ENST00000686245.1",
"protein_id": "ENSP00000509313.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.309C>T",
"hgvs_p": "p.Pro103Pro",
"transcript": "ENST00000688223.1",
"protein_id": "ENSP00000508935.1",
"transcript_support_level": null,
"aa_start": 103,
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"cds_start": 309,
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"cdna_start": 812,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.612C>T",
"hgvs_p": "p.Pro204Pro",
"transcript": "ENST00000692352.1",
"protein_id": "ENSP00000510737.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 719,
"cds_start": 612,
"cds_end": null,
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"cdna_start": 613,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.612C>T",
"hgvs_p": "p.Pro204Pro",
"transcript": "ENST00000689227.1",
"protein_id": "ENSP00000508857.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 440,
"cds_start": 612,
"cds_end": null,
"cds_length": 1324,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.3105C>T",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:11",
"phenotype_combined": "not specified|Aortic aneurysm, familial thoracic 7|not provided|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}