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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: 3-48295152-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48295152&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48295152,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001308430.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001308426.2",
"protein_id": "NP_001295355.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 317,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000442597.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308426.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "ENST00000442597.6",
"protein_id": "ENSP00000406642.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 317,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308426.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442597.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "ENST00000421967.5",
"protein_id": "ENSP00000416658.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 194,
"cds_start": 341,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421967.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "ENST00000426689.6",
"protein_id": "ENSP00000440286.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 317,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426689.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.23G>T",
"hgvs_p": "p.Arg8Leu",
"transcript": "ENST00000444069.5",
"protein_id": "ENSP00000493725.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 88,
"cds_start": 23,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.224-3803C>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412564.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.301G>T",
"hgvs_p": "p.Glu101*",
"transcript": "NM_001308430.2",
"protein_id": "NP_001295359.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 171,
"cds_start": 301,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308430.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Glu93*",
"transcript": "NM_001308431.2",
"protein_id": "NP_001295360.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 163,
"cds_start": 277,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308431.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Glu93*",
"transcript": "NM_001308433.2",
"protein_id": "NP_001295362.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 163,
"cds_start": 277,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308433.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Glu93*",
"transcript": "NM_001438656.1",
"protein_id": "NP_001425585.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 163,
"cds_start": 277,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438656.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Glu93*",
"transcript": "NM_001438657.1",
"protein_id": "NP_001425586.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 163,
"cds_start": 277,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438657.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Glu93*",
"transcript": "ENST00000435684.5",
"protein_id": "ENSP00000393261.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 163,
"cds_start": 277,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435684.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.277G>T",
"hgvs_p": "p.Glu93*",
"transcript": "ENST00000451657.6",
"protein_id": "ENSP00000407933.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 163,
"cds_start": 277,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451657.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.301G>T",
"hgvs_p": "p.Glu101*",
"transcript": "XM_017005516.3",
"protein_id": "XP_016861005.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 129,
"cds_start": 301,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005516.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001438659.1",
"protein_id": "NP_001425588.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 258,
"cds_start": 317,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438659.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001438660.1",
"protein_id": "NP_001425589.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 258,
"cds_start": 317,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438660.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.449G>T",
"hgvs_p": "p.Arg150Leu",
"transcript": "NM_001438658.1",
"protein_id": "NP_001425587.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 230,
"cds_start": 449,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438658.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "NM_005793.5",
"protein_id": "NP_005784.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 194,
"cds_start": 341,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005793.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001308427.2",
"protein_id": "NP_001295356.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 317,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308427.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001308428.2",
"protein_id": "NP_001295357.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 317,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308428.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001438654.1",
"protein_id": "NP_001425583.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 317,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438654.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NME6",
"gene_hgnc_id": 20567,
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"transcript": "NM_001438655.1",
"protein_id": "NP_001425584.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 186,
"cds_start": 317,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438655.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"computational_source_selected": "REVEL",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001308430.2",
"gene_symbol": "NME6",
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"effects": [
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000412564.5",
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"effects": [
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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
}