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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: 6-34417516-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=34417516&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 34417516,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001014.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "NM_001014.5",
"protein_id": "NP_001005.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648437.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000648437.1",
"protein_id": "ENSP00000497917.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPS10-NUDT3",
"gene_hgnc_id": 49181,
"hgvs_c": "c.456+853C>A",
"hgvs_p": null,
"transcript": "ENST00000639725.1",
"protein_id": "ENSP00000492441.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639725.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.560C>A",
"hgvs_p": "p.Pro187Gln",
"transcript": "ENST00000919463.1",
"protein_id": "ENSP00000589522.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 189,
"cds_start": 560,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919463.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.551C>A",
"hgvs_p": "p.Pro184Gln",
"transcript": "ENST00000644393.1",
"protein_id": "ENSP00000496022.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 186,
"cds_start": 551,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644393.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Pro168Gln",
"transcript": "ENST00000919454.1",
"protein_id": "ENSP00000589513.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 170,
"cds_start": 503,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919454.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Pro168Gln",
"transcript": "ENST00000919467.1",
"protein_id": "ENSP00000589526.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 170,
"cds_start": 503,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919467.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "NM_001203245.3",
"protein_id": "NP_001190174.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001203245.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "NM_001204091.2",
"protein_id": "NP_001191020.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204091.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000464218.5",
"protein_id": "ENSP00000494440.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464218.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000467531.5",
"protein_id": "ENSP00000494190.1",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467531.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000621356.3",
"protein_id": "ENSP00000481646.1",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621356.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000880004.1",
"protein_id": "ENSP00000550063.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880004.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919455.1",
"protein_id": "ENSP00000589514.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919455.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919456.1",
"protein_id": "ENSP00000589515.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919456.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919458.1",
"protein_id": "ENSP00000589517.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919458.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919459.1",
"protein_id": "ENSP00000589518.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919459.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919460.1",
"protein_id": "ENSP00000589519.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919460.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919465.1",
"protein_id": "ENSP00000589524.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919465.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919468.1",
"protein_id": "ENSP00000589527.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919468.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919469.1",
"protein_id": "ENSP00000589528.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919469.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS10",
"gene_hgnc_id": 10383,
"hgvs_c": "c.488C>A",
"hgvs_p": "p.Pro163Gln",
"transcript": "ENST00000919470.1",
"protein_id": "ENSP00000589529.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 165,
"cds_start": 488,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919470.1"
},
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{
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{
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],
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"phenotype_combined": "Diamond-Blackfan anemia 9",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}