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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: 8-133259226-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133259226&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 133259226,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001374844.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "NM_006096.4",
"protein_id": "NP_006087.2",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 394,
"cds_start": 331,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323851.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006096.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000323851.13",
"protein_id": "ENSP00000319977.8",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 394,
"cds_start": 331,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006096.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323851.13"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.133A>C",
"hgvs_p": "p.Met45Leu",
"transcript": "ENST00000522476.5",
"protein_id": "ENSP00000427894.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 328,
"cds_start": 133,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522476.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "NM_001374844.1",
"protein_id": "NP_001361773.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 411,
"cds_start": 331,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374844.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "NM_001135242.2",
"protein_id": "NP_001128714.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 394,
"cds_start": 331,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135242.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "NM_001374845.1",
"protein_id": "NP_001361774.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 394,
"cds_start": 331,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374845.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "NM_001374846.1",
"protein_id": "NP_001361775.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 394,
"cds_start": 331,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374846.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000414097.6",
"protein_id": "ENSP00000404854.2",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 394,
"cds_start": 331,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414097.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000537882.3",
"protein_id": "ENSP00000437443.2",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 386,
"cds_start": 331,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537882.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.133A>C",
"hgvs_p": "p.Met45Leu",
"transcript": "NM_001258432.2",
"protein_id": "NP_001245361.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 328,
"cds_start": 133,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258432.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.133A>C",
"hgvs_p": "p.Met45Leu",
"transcript": "NM_001374847.1",
"protein_id": "NP_001361776.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 328,
"cds_start": 133,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374847.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Met30Leu",
"transcript": "NM_001258433.2",
"protein_id": "NP_001245362.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 313,
"cds_start": 88,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258433.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.382A>C",
"hgvs_p": "p.Met128Leu",
"transcript": "ENST00000520230.5",
"protein_id": "ENSP00000428345.1",
"transcript_support_level": 4,
"aa_start": 128,
"aa_end": null,
"aa_length": 192,
"cds_start": 382,
"cds_end": null,
"cds_length": 580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520230.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.493A>C",
"hgvs_p": "p.Met165Leu",
"transcript": "ENST00000522738.1",
"protein_id": "ENSP00000428991.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 166,
"cds_start": 493,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522738.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000519228.5",
"protein_id": "ENSP00000429994.1",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 164,
"cds_start": 331,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519228.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000519580.6",
"protein_id": "ENSP00000429272.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 157,
"cds_start": 331,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519580.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000522890.5",
"protein_id": "ENSP00000428384.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 157,
"cds_start": 331,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522890.5"
},
{
"aa_ref": "M",
"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": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.364A>C",
"hgvs_p": "p.Met122Leu",
"transcript": "ENST00000520943.5",
"protein_id": "ENSP00000429840.1",
"transcript_support_level": 4,
"aa_start": 122,
"aa_end": null,
"aa_length": 155,
"cds_start": 364,
"cds_end": null,
"cds_length": 470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520943.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000521544.5",
"protein_id": "ENSP00000429524.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 132,
"cds_start": 331,
"cds_end": null,
"cds_length": 400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521544.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.331A>C",
"hgvs_p": "p.Met111Leu",
"transcript": "ENST00000676005.1",
"protein_id": "ENSP00000501604.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 119,
"cds_start": 331,
"cds_end": null,
"cds_length": 362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676005.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.133A>C",
"hgvs_p": "p.Met45Leu",
"transcript": "ENST00000518480.5",
"protein_id": "ENSP00000428802.1",
"transcript_support_level": 4,
"aa_start": 45,
"aa_end": null,
"aa_length": 99,
"cds_start": 133,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518480.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.49-12563A>C",
"hgvs_p": null,
"transcript": "ENST00000518176.5",
"protein_id": "ENSP00000429007.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518176.5"
},
{
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
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"verdict": "Benign",
"transcript": "NM_001374844.1",
"gene_symbol": "NDRG1",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4D,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Inborn genetic diseases|Charcot-Marie-Tooth disease type 4D|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}