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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: 2-120289632-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=120289632&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 120289632,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002881.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "NM_002881.3",
"protein_id": "NP_002872.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272519.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002881.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000272519.10",
"protein_id": "ENSP00000272519.4",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002881.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272519.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "NM_001369400.1",
"protein_id": "NP_001356329.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369400.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000420510.5",
"protein_id": "ENSP00000414224.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420510.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862911.1",
"protein_id": "ENSP00000532970.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862911.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862912.1",
"protein_id": "ENSP00000532971.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862912.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862913.1",
"protein_id": "ENSP00000532972.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862913.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862914.1",
"protein_id": "ENSP00000532973.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862914.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862915.1",
"protein_id": "ENSP00000532974.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862915.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862916.1",
"protein_id": "ENSP00000532975.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862916.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862917.1",
"protein_id": "ENSP00000532976.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862917.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862919.1",
"protein_id": "ENSP00000532978.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862919.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862920.1",
"protein_id": "ENSP00000532979.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862920.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862921.1",
"protein_id": "ENSP00000532980.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862921.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862922.1",
"protein_id": "ENSP00000532981.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862922.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000862923.1",
"protein_id": "ENSP00000532982.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862923.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000923638.1",
"protein_id": "ENSP00000593697.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923638.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000923640.1",
"protein_id": "ENSP00000593699.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923640.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000923642.1",
"protein_id": "ENSP00000593701.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923642.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000971139.1",
"protein_id": "ENSP00000641198.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971139.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000971140.1",
"protein_id": "ENSP00000641199.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971140.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met",
"transcript": "ENST00000971141.1",
"protein_id": "ENSP00000641200.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 206,
"cds_start": 376,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971141.1"
},
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"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"hgvs_c": "c.*40G>A",
"hgvs_p": null,
"transcript": "ENST00000449649.1",
"protein_id": "ENSP00000407062.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449649.1"
}
],
"gene_symbol": "RALB",
"gene_hgnc_id": 9840,
"dbsnp": "rs762186246",
"frequency_reference_population": 0.000024782717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000239428,
"gnomad_genomes_af": 0.0000328489,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8167481422424316,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.839,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.813,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002881.3",
"gene_symbol": "RALB",
"hgnc_id": 9840,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Met"
}
],
"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
}