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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: 8-133264553-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133264553&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 133264553,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000323851.13",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000522476.5",
"protein_id": "ENSP00000427894.1",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 328,
"cds_start": 1,
"cds_end": null,
"cds_length": 987,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "NM_006096.4",
"protein_id": "NP_006087.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 394,
"cds_start": 199,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000323851.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000323851.13",
"protein_id": "ENSP00000319977.8",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 394,
"cds_start": 199,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_006096.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001258432.2",
"protein_id": "NP_001245361.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 328,
"cds_start": 1,
"cds_end": null,
"cds_length": 987,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001374847.1",
"protein_id": "NP_001361776.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 328,
"cds_start": 1,
"cds_end": null,
"cds_length": 987,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000518480.5",
"protein_id": "ENSP00000428802.1",
"transcript_support_level": 4,
"aa_start": 1,
"aa_end": null,
"aa_length": 99,
"cds_start": 1,
"cds_end": null,
"cds_length": 300,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000523892.5",
"protein_id": "ENSP00000430171.1",
"transcript_support_level": 4,
"aa_start": 1,
"aa_end": null,
"aa_length": 41,
"cds_start": 1,
"cds_end": null,
"cds_length": 128,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "NM_001374844.1",
"protein_id": "NP_001361773.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 411,
"cds_start": 199,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "NM_001135242.2",
"protein_id": "NP_001128714.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 394,
"cds_start": 199,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "NM_001374845.1",
"protein_id": "NP_001361774.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 394,
"cds_start": 199,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "NM_001374846.1",
"protein_id": "NP_001361775.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 394,
"cds_start": 199,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000414097.6",
"protein_id": "ENSP00000404854.2",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 394,
"cds_start": 199,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000537882.3",
"protein_id": "ENSP00000437443.2",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 386,
"cds_start": 199,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Met84Val",
"transcript": "ENST00000520230.5",
"protein_id": "ENSP00000428345.1",
"transcript_support_level": 4,
"aa_start": 84,
"aa_end": null,
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"cds_start": 250,
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"cdna_start": 252,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Met121Val",
"transcript": "ENST00000522738.1",
"protein_id": "ENSP00000428991.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000519228.5",
"protein_id": "ENSP00000429994.1",
"transcript_support_level": 4,
"aa_start": 67,
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"cdna_start": 433,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000519580.6",
"protein_id": "ENSP00000429272.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 157,
"cds_start": 199,
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"cdna_start": 316,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000522890.5",
"protein_id": "ENSP00000428384.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 157,
"cds_start": 199,
"cds_end": null,
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"cdna_start": 306,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Met78Val",
"transcript": "ENST00000520943.5",
"protein_id": "ENSP00000429840.1",
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"mane_select": null,
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},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"intron_rank": null,
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"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000521544.5",
"protein_id": "ENSP00000429524.1",
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"aa_start": 67,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000676005.1",
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"cdna_start": 400,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"transcript": "ENST00000676375.1",
"protein_id": "ENSP00000502695.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 100,
"cds_start": 199,
"cds_end": null,
"cds_length": 305,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Met61Val",
"transcript": "ENST00000675600.1",
"protein_id": "ENSP00000501905.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 61,
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "Charcot-Marie-Tooth disease|not specified|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4D|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}