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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: 9-34552219-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34552219&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34552219,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001842.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "NM_147164.3",
"protein_id": "NP_671693.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378980.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147164.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000378980.8",
"protein_id": "ENSP00000368265.3",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_147164.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378980.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000351266.8",
"protein_id": "ENSP00000242338.4",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351266.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"transcript": "ENST00000868706.1",
"protein_id": "ENSP00000538765.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 390,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868706.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "ENST00000868699.1",
"protein_id": "ENSP00000538758.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 380,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868699.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "ENST00000868701.1",
"protein_id": "ENSP00000538760.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 380,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868701.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "ENST00000868707.1",
"protein_id": "ENSP00000538766.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 380,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868707.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "NM_001207011.2",
"protein_id": "NP_001193940.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207011.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "NM_001842.5",
"protein_id": "NP_001833.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001842.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000610543.4",
"protein_id": "ENSP00000480451.1",
"transcript_support_level": 5,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610543.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868690.1",
"protein_id": "ENSP00000538749.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868690.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868691.1",
"protein_id": "ENSP00000538750.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868691.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868692.1",
"protein_id": "ENSP00000538751.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868692.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868693.1",
"protein_id": "ENSP00000538752.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868693.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868694.1",
"protein_id": "ENSP00000538753.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868694.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868695.1",
"protein_id": "ENSP00000538754.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868695.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868696.1",
"protein_id": "ENSP00000538755.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868696.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868697.1",
"protein_id": "ENSP00000538756.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868697.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868698.1",
"protein_id": "ENSP00000538757.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868698.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868700.1",
"protein_id": "ENSP00000538759.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868700.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868702.1",
"protein_id": "ENSP00000538761.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868702.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"transcript": "ENST00000868703.1",
"protein_id": "ENSP00000538762.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 372,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"hgvs_c": "c.*53G>A",
"hgvs_p": null,
"transcript": "XM_047422754.1",
"protein_id": "XP_047278710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422754.1"
}
],
"gene_symbol": "CNTFR",
"gene_hgnc_id": 2170,
"dbsnp": "rs201797572",
"frequency_reference_population": 0.00014093002,
"hom_count_reference_population": 0,
"allele_count_reference_population": 222,
"gnomad_exomes_af": 0.000138438,
"gnomad_genomes_af": 0.000164227,
"gnomad_exomes_ac": 197,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10705944895744324,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.0753,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.395,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001842.5",
"gene_symbol": "CNTFR",
"hgnc_id": 2170,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}