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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: 19-1391144-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1391144&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1391144,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024407.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "NM_024407.5",
"protein_id": "NP_077718.3",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 213,
"cds_start": 434,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233627.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024407.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "ENST00000233627.14",
"protein_id": "ENSP00000233627.9",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 213,
"cds_start": 434,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024407.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233627.14"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"transcript": "ENST00000874016.1",
"protein_id": "ENSP00000544075.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 325,
"cds_start": 770,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874016.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"transcript": "ENST00000874018.1",
"protein_id": "ENSP00000544077.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 325,
"cds_start": 770,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874018.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.611G>T",
"hgvs_p": "p.Arg204Leu",
"transcript": "ENST00000874019.1",
"protein_id": "ENSP00000544078.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 272,
"cds_start": 611,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874019.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"transcript": "ENST00000874014.1",
"protein_id": "ENSP00000544073.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 243,
"cds_start": 524,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874014.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"transcript": "ENST00000414651.3",
"protein_id": "ENSP00000406630.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 236,
"cds_start": 524,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414651.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Arg156Leu",
"transcript": "ENST00000874017.1",
"protein_id": "ENSP00000544076.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 224,
"cds_start": 467,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874017.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.428G>T",
"hgvs_p": "p.Arg143Leu",
"transcript": "ENST00000874015.1",
"protein_id": "ENSP00000544074.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 211,
"cds_start": 428,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874015.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "ENST00000313408.11",
"protein_id": "ENSP00000364262.5",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 206,
"cds_start": 434,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313408.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "ENST00000546283.5",
"protein_id": "ENSP00000440348.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 206,
"cds_start": 434,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546283.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.365G>T",
"hgvs_p": "p.Arg122Leu",
"transcript": "ENST00000930044.1",
"protein_id": "ENSP00000600103.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 190,
"cds_start": 365,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930044.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "NM_001363602.2",
"protein_id": "NP_001350531.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 182,
"cds_start": 434,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363602.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "ENST00000539480.5",
"protein_id": "ENSP00000443273.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 182,
"cds_start": 434,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539480.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "c.254G>T",
"hgvs_p": "p.Arg85Leu",
"transcript": "ENST00000930043.1",
"protein_id": "ENSP00000600102.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 153,
"cds_start": 254,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "n.2389G>T",
"hgvs_p": null,
"transcript": "ENST00000436115.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000436115.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "n.*228G>T",
"hgvs_p": null,
"transcript": "ENST00000534853.5",
"protein_id": "ENSP00000442822.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000534853.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "n.686G>T",
"hgvs_p": null,
"transcript": "ENST00000535382.1",
"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": "ENST00000535382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "n.490G>T",
"hgvs_p": null,
"transcript": "ENST00000538523.5",
"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": "ENST00000538523.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "n.529G>T",
"hgvs_p": null,
"transcript": "ENST00000538662.5",
"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": "ENST00000538662.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "n.524G>T",
"hgvs_p": null,
"transcript": "ENST00000538929.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000538929.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS7",
"gene_hgnc_id": 7714,
"hgvs_c": "n.425G>T",
"hgvs_p": null,
"transcript": "ENST00000540530.5",
"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": "ENST00000540530.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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"computational_score_selected": 0.9499858617782593,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.835,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.138,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
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"criteria": [
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"PM5",
"PP3_Strong"
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"verdict": "Likely_pathogenic",
"transcript": "NM_024407.5",
"gene_symbol": "NDUFS7",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}