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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: 8-143309468-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143309468&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143309468,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_052963.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Ala593Ala",
"transcript": "NM_052963.3",
"protein_id": "NP_443195.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 601,
"cds_start": 1779,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329245.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052963.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Ala593Ala",
"transcript": "ENST00000329245.9",
"protein_id": "ENSP00000328835.3",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 601,
"cds_start": 1779,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052963.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329245.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1869C>T",
"hgvs_p": "p.Ala623Ala",
"transcript": "ENST00000969804.1",
"protein_id": "ENSP00000639863.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 631,
"cds_start": 1869,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969804.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1824C>T",
"hgvs_p": "p.Ala608Ala",
"transcript": "ENST00000870174.1",
"protein_id": "ENSP00000540233.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 616,
"cds_start": 1824,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870174.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Ala592Ala",
"transcript": "ENST00000870173.1",
"protein_id": "ENSP00000540232.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 600,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870173.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ala543Ala",
"transcript": "ENST00000915787.1",
"protein_id": "ENSP00000585846.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 551,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915787.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1524C>T",
"hgvs_p": "p.Ala508Ala",
"transcript": "ENST00000969805.1",
"protein_id": "ENSP00000639864.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 516,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969805.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Ala495Ala",
"transcript": "NM_001258446.1",
"protein_id": "NP_001245375.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258446.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Ala495Ala",
"transcript": "NM_001258447.1",
"protein_id": "NP_001245376.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258447.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Ala495Ala",
"transcript": "ENST00000519148.5",
"protein_id": "ENSP00000429169.1",
"transcript_support_level": 2,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519148.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Ala495Ala",
"transcript": "ENST00000521193.5",
"protein_id": "ENSP00000428369.1",
"transcript_support_level": 2,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521193.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Ala495Ala",
"transcript": "ENST00000523676.5",
"protein_id": "ENSP00000429181.1",
"transcript_support_level": 5,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523676.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.306C>T",
"hgvs_p": "p.Ala102Ala",
"transcript": "ENST00000519977.5",
"protein_id": "ENSP00000427925.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 110,
"cds_start": 306,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519977.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1899C>T",
"hgvs_p": "p.Ala633Ala",
"transcript": "XM_047421333.1",
"protein_id": "XP_047277289.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 641,
"cds_start": 1899,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421333.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Ala605Ala",
"transcript": "XM_047421334.1",
"protein_id": "XP_047277290.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 613,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421334.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.1662C>T",
"hgvs_p": "p.Ala554Ala",
"transcript": "XM_047421346.1",
"protein_id": "XP_047277302.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 562,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "n.512C>T",
"hgvs_p": null,
"transcript": "ENST00000517857.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000517857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.*254C>T",
"hgvs_p": null,
"transcript": "XM_047421330.1",
"protein_id": "XP_047277286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.*254C>T",
"hgvs_p": null,
"transcript": "XM_047421331.1",
"protein_id": "XP_047277287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": null,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.*254C>T",
"hgvs_p": null,
"transcript": "XM_005250781.5",
"protein_id": "XP_005250838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": null,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250781.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.*254C>T",
"hgvs_p": null,
"transcript": "XM_047421332.1",
"protein_id": "XP_047277288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.*254C>T",
"hgvs_p": null,
"transcript": "XM_047421335.1",
"protein_id": "XP_047277291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": null,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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],
"gene_symbol": "TOP1MT",
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"dbsnp": "rs112672243",
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"hom_count_reference_population": 75,
"allele_count_reference_population": 4153,
"gnomad_exomes_af": 0.00170496,
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"computational_score_selected": 0.1899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.849,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_052963.3",
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"hgnc_id": 29787,
"effects": [
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"inheritance_mode": "AR",
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Ala593Ala"
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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
}