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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: 7-80213989-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=80213989&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 80213989,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000649796.2",
"consequences": [
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "NM_002069.6",
"protein_id": "NP_002060.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10083,
"mane_select": "ENST00000649796.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000649796.2",
"protein_id": "ENSP00000497260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10083,
"mane_select": "NM_002069.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000351004.8",
"protein_id": "ENSP00000343027.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.*1097C>T",
"hgvs_p": null,
"transcript": "ENST00000647672.1",
"protein_id": "ENSP00000497802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000442586.2",
"protein_id": "ENSP00000391439.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000648098.1",
"protein_id": "ENSP00000497717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000648306.1",
"protein_id": "ENSP00000497773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000648412.1",
"protein_id": "ENSP00000497051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000648476.1",
"protein_id": "ENSP00000497179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000648663.1",
"protein_id": "ENSP00000497379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.874+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000648832.1",
"protein_id": "ENSP00000497765.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "GNAI1",
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"hgvs_c": "c.874+1120C>T",
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"transcript": "ENST00000648877.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
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"gene_symbol": "GNAI1",
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"hgvs_c": "c.874+1120C>T",
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"transcript": "ENST00000648953.1",
"protein_id": "ENSP00000496800.1",
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},
{
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],
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"gene_symbol": "GNAI1",
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"hgvs_c": "c.874+1120C>T",
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"transcript": "ENST00000649225.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "GNAI1",
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"transcript": "ENST00000649487.1",
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},
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],
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"gene_symbol": "GNAI1",
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"hgvs_c": "c.874+1120C>T",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "GNAI1",
"gene_hgnc_id": 4384,
"hgvs_c": "c.718+1120C>T",
"hgvs_p": null,
"transcript": "NM_001256414.2",
"protein_id": "NP_001243343.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "GNAI1",
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"transcript": "ENST00000457358.7",
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],
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},
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],
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},
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 7,
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"gene_symbol": "GNAI1",
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"hgvs_c": "n.820+1120C>T",
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"transcript": "ENST00000648097.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GNAI1",
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"hgvs_c": "n.*902+1120C>T",
"hgvs_p": null,
"transcript": "ENST00000648375.1",
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}