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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: 14-35683971-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=35683971&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 35683971,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001346249.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4309A>G",
"hgvs_p": "p.Thr1437Ala",
"transcript": "NM_001346249.2",
"protein_id": "NP_001333178.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 2542,
"cds_start": 4309,
"cds_end": null,
"cds_length": 7629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680220.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346249.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4309A>G",
"hgvs_p": "p.Thr1437Ala",
"transcript": "ENST00000680220.1",
"protein_id": "ENSP00000506280.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 2542,
"cds_start": 4309,
"cds_end": null,
"cds_length": 7629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001346249.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680220.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2791A>G",
"hgvs_p": "p.Thr931Ala",
"transcript": "ENST00000307138.10",
"protein_id": "ENSP00000302647.6",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 2083,
"cds_start": 2791,
"cds_end": null,
"cds_length": 6252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307138.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2830A>G",
"hgvs_p": "p.Thr944Ala",
"transcript": "ENST00000382366.7",
"protein_id": "ENSP00000371803.3",
"transcript_support_level": 1,
"aa_start": 944,
"aa_end": null,
"aa_length": 2049,
"cds_start": 2830,
"cds_end": null,
"cds_length": 6150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382366.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2791A>G",
"hgvs_p": "p.Thr931Ala",
"transcript": "ENST00000389698.7",
"protein_id": "ENSP00000374348.3",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 2036,
"cds_start": 2791,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389698.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4168A>G",
"hgvs_p": "p.Thr1390Ala",
"transcript": "NM_001330075.3",
"protein_id": "NP_001317004.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 2495,
"cds_start": 4168,
"cds_end": null,
"cds_length": 7488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330075.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4168A>G",
"hgvs_p": "p.Thr1390Ala",
"transcript": "NM_001346248.2",
"protein_id": "NP_001333177.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 2495,
"cds_start": 4168,
"cds_end": null,
"cds_length": 7488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346248.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4168A>G",
"hgvs_p": "p.Thr1390Ala",
"transcript": "ENST00000637992.1",
"protein_id": "ENSP00000490119.1",
"transcript_support_level": 5,
"aa_start": 1390,
"aa_end": null,
"aa_length": 2495,
"cds_start": 4168,
"cds_end": null,
"cds_length": 7488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637992.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2932A>G",
"hgvs_p": "p.Thr978Ala",
"transcript": "NM_001346247.2",
"protein_id": "NP_001333176.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 2131,
"cds_start": 2932,
"cds_end": null,
"cds_length": 6396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346247.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2932A>G",
"hgvs_p": "p.Thr978Ala",
"transcript": "ENST00000554259.6",
"protein_id": "ENSP00000451133.2",
"transcript_support_level": 5,
"aa_start": 978,
"aa_end": null,
"aa_length": 2131,
"cds_start": 2932,
"cds_end": null,
"cds_length": 6396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554259.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2791A>G",
"hgvs_p": "p.Thr931Ala",
"transcript": "NM_001346246.2",
"protein_id": "NP_001333175.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 2084,
"cds_start": 2791,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346246.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2932A>G",
"hgvs_p": "p.Thr978Ala",
"transcript": "NM_001283044.3",
"protein_id": "NP_001269973.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 2083,
"cds_start": 2932,
"cds_end": null,
"cds_length": 6252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283044.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2932A>G",
"hgvs_p": "p.Thr978Ala",
"transcript": "NM_001346245.2",
"protein_id": "NP_001333174.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 2083,
"cds_start": 2932,
"cds_end": null,
"cds_length": 6252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346245.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2791A>G",
"hgvs_p": "p.Thr931Ala",
"transcript": "NM_194301.4",
"protein_id": "NP_919277.2",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 2083,
"cds_start": 2791,
"cds_end": null,
"cds_length": 6252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194301.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2932A>G",
"hgvs_p": "p.Thr978Ala",
"transcript": "ENST00000553892.2",
"protein_id": "ENSP00000451877.1",
"transcript_support_level": 5,
"aa_start": 978,
"aa_end": null,
"aa_length": 2083,
"cds_start": 2932,
"cds_end": null,
"cds_length": 6252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553892.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2830A>G",
"hgvs_p": "p.Thr944Ala",
"transcript": "NM_001283043.3",
"protein_id": "NP_001269972.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 2049,
"cds_start": 2830,
"cds_end": null,
"cds_length": 6150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283043.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2791A>G",
"hgvs_p": "p.Thr931Ala",
"transcript": "NM_001346243.2",
"protein_id": "NP_001333172.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 2036,
"cds_start": 2791,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346243.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.2791A>G",
"hgvs_p": "p.Thr931Ala",
"transcript": "NM_014990.3",
"protein_id": "NP_055805.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 2036,
"cds_start": 2791,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014990.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4309A>G",
"hgvs_p": "p.Thr1437Ala",
"transcript": "XM_006720098.4",
"protein_id": "XP_006720161.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 2590,
"cds_start": 4309,
"cds_end": null,
"cds_length": 7773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720098.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4309A>G",
"hgvs_p": "p.Thr1437Ala",
"transcript": "XM_006720099.4",
"protein_id": "XP_006720162.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 2589,
"cds_start": 4309,
"cds_end": null,
"cds_length": 7770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720099.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4168A>G",
"hgvs_p": "p.Thr1390Ala",
"transcript": "XM_006720100.5",
"protein_id": "XP_006720163.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 2543,
"cds_start": 4168,
"cds_end": null,
"cds_length": 7632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720100.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.4309A>G",
"hgvs_p": "p.Thr1437Ala",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation|not provided",
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}
],
"message": null
}