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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: 4-151566279-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=151566279&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 151566279,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001109977.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "NM_001109977.3",
"protein_id": "NP_001103447.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435205.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001109977.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000435205.6",
"protein_id": "ENSP00000413196.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001109977.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435205.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "NM_001348694.2",
"protein_id": "NP_001335623.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348694.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000505231.1",
"protein_id": "ENSP00000421580.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505231.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000883036.1",
"protein_id": "ENSP00000553095.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883036.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000883037.1",
"protein_id": "ENSP00000553096.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883037.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000883038.1",
"protein_id": "ENSP00000553097.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883038.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000883040.1",
"protein_id": "ENSP00000553099.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883040.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000923453.1",
"protein_id": "ENSP00000593512.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923453.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000923454.1",
"protein_id": "ENSP00000593513.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923454.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000883039.1",
"protein_id": "ENSP00000553098.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 802,
"cds_start": 20,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883039.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000512597.5",
"protein_id": "ENSP00000421948.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 59,
"cds_start": 20,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512597.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000513962.5",
"protein_id": "ENSP00000426677.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 41,
"cds_start": 20,
"cds_end": null,
"cds_length": 127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513962.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000503146.5",
"protein_id": "ENSP00000424175.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 39,
"cds_start": 20,
"cds_end": null,
"cds_length": 120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503146.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "ENST00000513086.5",
"protein_id": "ENSP00000425333.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 12,
"cds_start": 20,
"cds_end": null,
"cds_length": 40,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513086.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "XM_005263199.2",
"protein_id": "XP_005263256.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263199.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "XM_011532220.3",
"protein_id": "XP_011530522.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532220.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "XM_011532221.3",
"protein_id": "XP_011530523.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532221.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "XM_011532223.3",
"protein_id": "XP_011530525.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532223.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "XM_011532224.3",
"protein_id": "XP_011530526.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532224.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "XM_024454201.2",
"protein_id": "XP_024309969.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454201.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile",
"transcript": "XM_047416127.1",
"protein_id": "XP_047272083.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1040,
"cds_start": 20,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"hgvs_c": "n.*21C>T",
"hgvs_p": null,
"transcript": "ENST00000508198.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508198.5"
}
],
"gene_symbol": "FHIP1A",
"gene_hgnc_id": 34237,
"dbsnp": "rs188418316",
"frequency_reference_population": 0.00030581633,
"hom_count_reference_population": 0,
"allele_count_reference_population": 474,
"gnomad_exomes_af": 0.000307643,
"gnomad_genomes_af": 0.000289048,
"gnomad_exomes_ac": 430,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05754324793815613,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.1099,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.048,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001109977.3",
"gene_symbol": "FHIP1A",
"hgnc_id": 34237,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Ile"
}
],
"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
}