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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: 6-127329221-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127329221&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 127329221,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000454859.8",
"consequences": [
{
"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": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.220+1588G>C",
"hgvs_p": null,
"transcript": "NM_001002030.2",
"protein_id": "NP_001002030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": "ENST00000454859.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.220+1588G>C",
"hgvs_p": null,
"transcript": "ENST00000454859.8",
"protein_id": "ENSP00000401751.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": "NM_001002030.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.-5-2077G>C",
"hgvs_p": null,
"transcript": "ENST00000528402.5",
"protein_id": "ENSP00000436109.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.220+1588G>C",
"hgvs_p": null,
"transcript": "ENST00000436638.6",
"protein_id": "ENSP00000399233.2",
"transcript_support_level": 3,
"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": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.238+1588G>C",
"hgvs_p": null,
"transcript": "NM_001139510.2",
"protein_id": "NP_001132982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.238+1588G>C",
"hgvs_p": null,
"transcript": "ENST00000531967.5",
"protein_id": "ENSP00000436585.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.220+1588G>C",
"hgvs_p": null,
"transcript": "ENST00000430841.6",
"protein_id": "ENSP00000402492.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.220+1588G>C",
"hgvs_p": null,
"transcript": "ENST00000474289.6",
"protein_id": "ENSP00000434908.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.-5-2077G>C",
"hgvs_p": null,
"transcript": "NM_001105544.2",
"protein_id": "NP_001099014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": -4,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.-5-2077G>C",
"hgvs_p": null,
"transcript": "ENST00000454591.6",
"protein_id": "ENSP00000404866.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 226,
"cds_start": -4,
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"cds_length": 681,
"cdna_start": null,
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"cdna_length": 1515,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "c.220+1588G>C",
"hgvs_p": null,
"transcript": "ENST00000525745.5",
"protein_id": "ENSP00000435068.1",
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "ECHDC1",
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"transcript": "ENST00000534442.5",
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},
{
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],
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"gene_symbol": "ECHDC1",
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"hgvs_c": "c.220+1588G>C",
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"transcript": "NM_018479.4",
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},
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],
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"gene_symbol": "ECHDC1",
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"hgvs_c": "c.220+1588G>C",
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"transcript": "ENST00000368289.6",
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},
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],
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},
{
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],
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"gene_symbol": "ECHDC1",
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"hgvs_c": "c.220+1588G>C",
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},
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],
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"gene_symbol": "ECHDC1",
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"hgvs_c": "c.-5-2077G>C",
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"transcript": "NM_001105545.2",
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},
{
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],
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"exon_count": 3,
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"gene_symbol": "ECHDC1",
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"hgvs_c": "n.245+1588G>C",
"hgvs_p": null,
"transcript": "ENST00000368287.1",
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},
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],
"exon_rank": null,
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"hgvs_c": "n.220+1588G>C",
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},
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],
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},
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],
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},
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],
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"gene_symbol": "ECHDC1",
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"hgvs_c": "n.220+1588G>C",
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"transcript": "ENST00000479525.6",
"protein_id": "ENSP00000420711.2",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ECHDC1",
"gene_hgnc_id": 21489,
"hgvs_c": "n.*29+601G>C",
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"transcript": "ENST00000526299.5",
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},
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}
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}