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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: 3-48294744-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48294744&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48294744,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001438658.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "NM_001308426.2",
"protein_id": "NP_001295355.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": "ENST00000442597.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308426.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000442597.6",
"protein_id": "ENSP00000406642.1",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": "NM_001308426.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442597.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Cys",
"transcript": "ENST00000421967.5",
"protein_id": "ENSP00000416658.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 194,
"cds_start": 478,
"cds_end": null,
"cds_length": 585,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421967.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000426689.6",
"protein_id": "ENSP00000440286.1",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426689.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Arg54Cys",
"transcript": "ENST00000444069.5",
"protein_id": "ENSP00000493725.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 88,
"cds_start": 160,
"cds_end": null,
"cds_length": 267,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444069.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF589",
"gene_hgnc_id": 16747,
"hgvs_c": "c.224-4211G>A",
"hgvs_p": null,
"transcript": "ENST00000412564.5",
"protein_id": "ENSP00000404398.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412564.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.586C>T",
"hgvs_p": "p.Arg196Cys",
"transcript": "NM_001438658.1",
"protein_id": "NP_001425587.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 230,
"cds_start": 586,
"cds_end": null,
"cds_length": 693,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438658.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Cys",
"transcript": "NM_005793.5",
"protein_id": "NP_005784.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 194,
"cds_start": 478,
"cds_end": null,
"cds_length": 585,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005793.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "NM_001308427.2",
"protein_id": "NP_001295356.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308427.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "NM_001308428.2",
"protein_id": "NP_001295357.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308428.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "NM_001438654.1",
"protein_id": "NP_001425583.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438654.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "NM_001438655.1",
"protein_id": "NP_001425584.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438655.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000415053.5",
"protein_id": "ENSP00000399582.1",
"transcript_support_level": 3,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415053.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000452211.5",
"protein_id": "ENSP00000392352.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452211.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000643457.1",
"protein_id": "ENSP00000495130.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643457.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000885416.1",
"protein_id": "ENSP00000555475.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885416.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000885417.1",
"protein_id": "ENSP00000555476.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885417.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000885418.1",
"protein_id": "ENSP00000555477.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885418.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000885419.1",
"protein_id": "ENSP00000555478.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885419.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000885420.1",
"protein_id": "ENSP00000555479.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885420.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000885422.1",
"protein_id": "ENSP00000555481.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885422.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000885423.1",
"protein_id": "ENSP00000555482.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 186,
"cds_start": 454,
"cds_end": null,
"cds_length": 561,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885423.1"
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001438658.1",
"gene_symbol": "NME6",
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"effects": [
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],
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},
{
"score": -2,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000412564.5",
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],
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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
}