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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: 1-201359632-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201359632&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201359632,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001276345.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.842A>T",
"hgvs_p": "p.Asn281Ile",
"transcript": "NM_001276345.2",
"protein_id": "NP_001263274.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 298,
"cds_start": 842,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000656932.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276345.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.842A>T",
"hgvs_p": "p.Asn281Ile",
"transcript": "ENST00000656932.1",
"protein_id": "ENSP00000499593.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 298,
"cds_start": 842,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001276345.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000656932.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.800A>T",
"hgvs_p": "p.Asn267Ile",
"transcript": "ENST00000367322.6",
"protein_id": "ENSP00000356291.2",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 284,
"cds_start": 800,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367322.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.713A>T",
"hgvs_p": "p.Asn238Ile",
"transcript": "ENST00000367320.6",
"protein_id": "ENSP00000356289.2",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 255,
"cds_start": 713,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367320.6"
},
{
"aa_ref": "*",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.789A>T",
"hgvs_p": "p.Ter263Tyrext*?",
"transcript": "ENST00000714316.2",
"protein_id": "ENSP00000519592.2",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 262,
"cds_start": 789,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714316.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.877A>T",
"hgvs_p": "p.Thr293Ser",
"transcript": "ENST00000658476.1",
"protein_id": "ENSP00000499741.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 368,
"cds_start": 877,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000658476.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.842A>T",
"hgvs_p": "p.Asn281Ile",
"transcript": "ENST00000714314.1",
"protein_id": "ENSP00000519590.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 298,
"cds_start": 842,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714314.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.833A>T",
"hgvs_p": "p.Asn278Ile",
"transcript": "NM_000364.4",
"protein_id": "NP_000355.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 295,
"cds_start": 833,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000364.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.833A>T",
"hgvs_p": "p.Asn278Ile",
"transcript": "NM_001406723.1",
"protein_id": "NP_001393652.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 295,
"cds_start": 833,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406723.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.833A>T",
"hgvs_p": "p.Asn278Ile",
"transcript": "ENST00000422165.6",
"protein_id": "ENSP00000395163.2",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 295,
"cds_start": 833,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422165.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.827A>T",
"hgvs_p": "p.Asn276Ile",
"transcript": "ENST00000455702.7",
"protein_id": "ENSP00000402238.3",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 293,
"cds_start": 827,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455702.7"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asn271Ile",
"transcript": "NM_001001430.3",
"protein_id": "NP_001001430.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 288,
"cds_start": 812,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001430.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asn271Ile",
"transcript": "NM_001276347.2",
"protein_id": "NP_001263276.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 288,
"cds_start": 812,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276347.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asn271Ile",
"transcript": "NM_001406724.1",
"protein_id": "NP_001393653.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 288,
"cds_start": 812,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406724.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asn271Ile",
"transcript": "ENST00000367318.10",
"protein_id": "ENSP00000356287.5",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 288,
"cds_start": 812,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367318.10"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asn271Ile",
"transcript": "ENST00000509001.5",
"protein_id": "ENSP00000422031.1",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 288,
"cds_start": 812,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509001.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Asn271Ile",
"transcript": "ENST00000660295.1",
"protein_id": "ENSP00000499418.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 288,
"cds_start": 812,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660295.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.809A>T",
"hgvs_p": "p.Asn270Ile",
"transcript": "NM_001406725.1",
"protein_id": "NP_001393654.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 287,
"cds_start": 809,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406725.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Asn268Ile",
"transcript": "NM_001001431.3",
"protein_id": "NP_001001431.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 285,
"cds_start": 803,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001431.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Asn268Ile",
"transcript": "NM_001406726.1",
"protein_id": "NP_001393655.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 285,
"cds_start": 803,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406726.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Asn268Ile",
"transcript": "NM_001406727.1",
"protein_id": "NP_001393656.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 285,
"cds_start": 803,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406727.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT2",
"gene_hgnc_id": 11949,
"hgvs_c": "c.803A>T",
"hgvs_p": "p.Asn268Ile",
"transcript": "ENST00000412633.3",
"protein_id": "ENSP00000408731.2",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 285,
"cds_start": 803,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:6 US:4",
"phenotype_combined": "Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2|Dilated cardiomyopathy 1D|not specified|not provided|Cardiomyopathy|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
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}