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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: 8-143309444-GAAT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143309444&ref=GAAT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143309444,
"ref": "GAAT",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_052963.3",
"consequences": [
{
"aa_ref": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1800_1802delATT",
"hgvs_p": "p.Glu600_Phe601delinsAsp",
"transcript": "NM_052963.3",
"protein_id": "NP_443195.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 601,
"cds_start": 1800,
"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": "EF",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1800_1802delATT",
"hgvs_p": "p.Glu600_Phe601delinsAsp",
"transcript": "ENST00000329245.9",
"protein_id": "ENSP00000328835.3",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 601,
"cds_start": 1800,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1890_1892delATT",
"hgvs_p": "p.Glu630_Phe631delinsAsp",
"transcript": "ENST00000969804.1",
"protein_id": "ENSP00000639863.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 631,
"cds_start": 1890,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1845_1847delATT",
"hgvs_p": "p.Glu615_Phe616delinsAsp",
"transcript": "ENST00000870174.1",
"protein_id": "ENSP00000540233.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 616,
"cds_start": 1845,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1797_1799delATT",
"hgvs_p": "p.Glu599_Phe600delinsAsp",
"transcript": "ENST00000870173.1",
"protein_id": "ENSP00000540232.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 600,
"cds_start": 1797,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1650_1652delATT",
"hgvs_p": "p.Glu550_Phe551delinsAsp",
"transcript": "ENST00000915787.1",
"protein_id": "ENSP00000585846.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 551,
"cds_start": 1650,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1545_1547delATT",
"hgvs_p": "p.Glu515_Phe516delinsAsp",
"transcript": "ENST00000969805.1",
"protein_id": "ENSP00000639864.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 516,
"cds_start": 1545,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1506_1508delATT",
"hgvs_p": "p.Glu502_Phe503delinsAsp",
"transcript": "NM_001258446.1",
"protein_id": "NP_001245375.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 503,
"cds_start": 1506,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1506_1508delATT",
"hgvs_p": "p.Glu502_Phe503delinsAsp",
"transcript": "NM_001258447.1",
"protein_id": "NP_001245376.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 503,
"cds_start": 1506,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1506_1508delATT",
"hgvs_p": "p.Glu502_Phe503delinsAsp",
"transcript": "ENST00000519148.5",
"protein_id": "ENSP00000429169.1",
"transcript_support_level": 2,
"aa_start": 502,
"aa_end": null,
"aa_length": 503,
"cds_start": 1506,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1506_1508delATT",
"hgvs_p": "p.Glu502_Phe503delinsAsp",
"transcript": "ENST00000521193.5",
"protein_id": "ENSP00000428369.1",
"transcript_support_level": 2,
"aa_start": 502,
"aa_end": null,
"aa_length": 503,
"cds_start": 1506,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1506_1508delATT",
"hgvs_p": "p.Glu502_Phe503delinsAsp",
"transcript": "ENST00000523676.5",
"protein_id": "ENSP00000429181.1",
"transcript_support_level": 5,
"aa_start": 502,
"aa_end": null,
"aa_length": 503,
"cds_start": 1506,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.327_329delATT",
"hgvs_p": "p.Glu109_Phe110delinsAsp",
"transcript": "ENST00000519977.5",
"protein_id": "ENSP00000427925.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 110,
"cds_start": 327,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1920_1922delATT",
"hgvs_p": "p.Glu640_Phe641delinsAsp",
"transcript": "XM_047421333.1",
"protein_id": "XP_047277289.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 641,
"cds_start": 1920,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1836_1838delATT",
"hgvs_p": "p.Glu612_Phe613delinsAsp",
"transcript": "XM_047421334.1",
"protein_id": "XP_047277290.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 613,
"cds_start": 1836,
"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": "EF",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1683_1685delATT",
"hgvs_p": "p.Glu561_Phe562delinsAsp",
"transcript": "XM_047421346.1",
"protein_id": "XP_047277302.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 562,
"cds_start": 1683,
"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.533_535delATT",
"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.*275_*277delATT",
"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.*275_*277delATT",
"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.*275_*277delATT",
"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.*275_*277delATT",
"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.*275_*277delATT",
"hgvs_p": null,
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{
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],
"gene_symbol": "TOP1MT",
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"dbsnp": "rs779398707",
"frequency_reference_population": 0.000045864283,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.000043798,
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"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.221,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052963.3",
"gene_symbol": "TOP1MT",
"hgnc_id": 29787,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1800_1802delATT",
"hgvs_p": "p.Glu600_Phe601delinsAsp"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}