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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: 6-152098852-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152098852&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 152098852,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000206249.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "NM_000125.4",
"protein_id": "NP_000116.2",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": "ENST00000206249.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "ENST00000206249.8",
"protein_id": "ENSP00000206249.3",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": "NM_000125.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Ala297Ala",
"transcript": "ENST00000406599.5",
"protein_id": "ENSP00000384064.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 334,
"cds_start": 891,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.*549A>G",
"hgvs_p": null,
"transcript": "ENST00000456483.3",
"protein_id": "ENSP00000415934.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.851-26414A>G",
"hgvs_p": null,
"transcript": "ENST00000427531.6",
"protein_id": "ENSP00000394721.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1680A>G",
"hgvs_p": "p.Ala560Ala",
"transcript": "NM_001291230.2",
"protein_id": "NP_001278159.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 597,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "NM_001122740.2",
"protein_id": "NP_001116212.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 6480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "NM_001122741.2",
"protein_id": "NP_001116213.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "NM_001122742.2",
"protein_id": "NP_001116214.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "NM_001385568.1",
"protein_id": "NP_001372497.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 6389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "NM_001385569.1",
"protein_id": "NP_001372498.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "ENST00000338799.9",
"protein_id": "ENSP00000342630.5",
"transcript_support_level": 5,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 3134,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "ENST00000440973.5",
"protein_id": "ENSP00000405330.1",
"transcript_support_level": 5,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 6466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "ENST00000443427.5",
"protein_id": "ENSP00000387500.1",
"transcript_support_level": 5,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1671A>G",
"hgvs_p": "p.Ala557Ala",
"transcript": "NM_001291241.2",
"protein_id": "NP_001278170.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 594,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 6279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "XM_011535543.3",
"protein_id": "XP_011533845.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
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"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 6549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "XM_011535545.3",
"protein_id": "XP_011533847.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "XM_017010377.2",
"protein_id": "XP_016865866.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "XM_017010378.2",
"protein_id": "XP_016865867.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
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"cdna_start": 2017,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "XM_017010379.2",
"protein_id": "XP_016865868.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
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"cdna_start": 7060,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "XM_017010380.2",
"protein_id": "XP_016865869.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
"transcript": "XM_017010381.2",
"protein_id": "XP_016865870.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 595,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 6188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Ala558Ala",
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],
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}