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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: 9-137309675-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137309675&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137309675,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017820.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2210A>G",
"hgvs_p": "p.Lys737Arg",
"transcript": "NM_017820.5",
"protein_id": "NP_060290.3",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 876,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "ENST00000340951.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017820.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2210A>G",
"hgvs_p": "p.Lys737Arg",
"transcript": "ENST00000340951.9",
"protein_id": "ENSP00000340474.4",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 876,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": "NM_017820.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340951.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1317A>G",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"transcript_support_level": 1,
"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": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491734.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1317A>G",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"transcript_support_level": 1,
"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": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491734.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2540A>G",
"hgvs_p": "p.Lys847Arg",
"transcript": "ENST00000961732.1",
"protein_id": "ENSP00000631791.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 986,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961732.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Lys838Arg",
"transcript": "ENST00000961738.1",
"protein_id": "ENSP00000631797.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 964,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2560,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961738.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2384A>G",
"hgvs_p": "p.Lys795Arg",
"transcript": "ENST00000879818.1",
"protein_id": "ENSP00000549877.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 934,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879818.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2357A>G",
"hgvs_p": "p.Lys786Arg",
"transcript": "ENST00000879813.1",
"protein_id": "ENSP00000549872.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 925,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879813.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Lys784Arg",
"transcript": "ENST00000879821.1",
"protein_id": "ENSP00000549880.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 923,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879821.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2306A>G",
"hgvs_p": "p.Lys769Arg",
"transcript": "ENST00000961736.1",
"protein_id": "ENSP00000631795.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 908,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961736.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Lys767Arg",
"transcript": "ENST00000879816.1",
"protein_id": "ENSP00000549875.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 906,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879816.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Lys767Arg",
"transcript": "ENST00000913121.1",
"protein_id": "ENSP00000583180.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 893,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913121.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2252A>G",
"hgvs_p": "p.Lys751Arg",
"transcript": "ENST00000961731.1",
"protein_id": "ENSP00000631790.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 890,
"cds_start": 2252,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961731.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2246A>G",
"hgvs_p": "p.Lys749Arg",
"transcript": "ENST00000879822.1",
"protein_id": "ENSP00000549881.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 888,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879822.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Lys738Arg",
"transcript": "ENST00000879814.1",
"protein_id": "ENSP00000549873.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 877,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879814.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2210A>G",
"hgvs_p": "p.Lys737Arg",
"transcript": "ENST00000879819.1",
"protein_id": "ENSP00000549878.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 876,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879819.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2210A>G",
"hgvs_p": "p.Lys737Arg",
"transcript": "ENST00000879815.1",
"protein_id": "ENSP00000549874.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 863,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879815.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2171A>G",
"hgvs_p": "p.Lys724Arg",
"transcript": "ENST00000961733.1",
"protein_id": "ENSP00000631792.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 863,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961733.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Lys723Arg",
"transcript": "ENST00000879817.1",
"protein_id": "ENSP00000549876.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 862,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879817.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Lys723Arg",
"transcript": "ENST00000961737.1",
"protein_id": "ENSP00000631796.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 849,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961737.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2123A>G",
"hgvs_p": "p.Lys708Arg",
"transcript": "ENST00000879820.1",
"protein_id": "ENSP00000549879.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 847,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879820.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Lys681Arg",
"transcript": "ENST00000961734.1",
"protein_id": "ENSP00000631793.1",
"transcript_support_level": null,
"aa_start": 681,
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{
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{
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{
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{
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],
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],
"gene_symbol": "EXD3",
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"dbsnp": "rs573550533",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06538718938827515,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.46,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017820.5",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}