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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: 10-97738509-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97738509&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97738509,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000684270.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "NM_001385875.1",
"protein_id": "NP_001372804.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 411,
"cds_start": 32,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "ENST00000684270.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000684270.1",
"protein_id": "ENSP00000506975.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 411,
"cds_start": 32,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "NM_001385875.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000393677.8",
"protein_id": "ENSP00000377282.3",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 411,
"cds_start": 32,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-148C>T",
"hgvs_p": null,
"transcript": "NM_001385890.1",
"protein_id": "NP_001372819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-148C>T",
"hgvs_p": null,
"transcript": "NM_001385893.1",
"protein_id": "NP_001372822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-148C>T",
"hgvs_p": null,
"transcript": "NM_001385895.1",
"protein_id": "NP_001372824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-148C>T",
"hgvs_p": null,
"transcript": "NM_001385897.1",
"protein_id": "NP_001372826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-148C>T",
"hgvs_p": null,
"transcript": "NM_001385898.1",
"protein_id": "NP_001372827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-135C>T",
"hgvs_p": null,
"transcript": "NM_001385899.1",
"protein_id": "NP_001372828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": -4,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-135C>T",
"hgvs_p": null,
"transcript": "NM_001385900.1",
"protein_id": "NP_001372829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": -4,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
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"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-135C>T",
"hgvs_p": null,
"transcript": "NM_001385903.1",
"protein_id": "NP_001372832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
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"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-135C>T",
"hgvs_p": null,
"transcript": "NM_001385904.1",
"protein_id": "NP_001372833.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-135C>T",
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"transcript": "NM_001385905.1",
"protein_id": "NP_001372834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-163C>T",
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"transcript": "NM_001385915.1",
"protein_id": "NP_001372844.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-135C>T",
"hgvs_p": null,
"transcript": "NM_001385916.1",
"protein_id": "NP_001372845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 882,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.-135C>T",
"hgvs_p": null,
"transcript": "NM_001385919.1",
"protein_id": "NP_001372848.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "NM_001385876.1",
"protein_id": "NP_001372805.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 422,
"cds_start": 32,
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"cdna_start": 231,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "NM_001002261.4",
"protein_id": "NP_001002261.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 416,
"cds_start": 32,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "NM_001385871.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000423811.3",
"protein_id": "ENSP00000409594.2",
"transcript_support_level": 5,
"aa_start": 11,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "NM_144588.7",
"protein_id": "NP_653189.3",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 411,
"cds_start": 32,
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"cds_length": 1236,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "NM_001385877.1",
"protein_id": "NP_001372806.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 410,
"cds_start": 32,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
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"inheritance_mode": "AD",
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 33,Spastic paraplegia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Hereditary spastic paraplegia 33|Spastic paraplegia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}