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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: 4-73587893-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73587893&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73587893,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_201431.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "NM_177532.5",
"protein_id": "NP_803876.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307439.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177532.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000307439.10",
"protein_id": "ENSP00000303877.5",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307439.10"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Ser98Ile",
"transcript": "ENST00000335049.5",
"protein_id": "ENSP00000335582.5",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 325,
"cds_start": 293,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335049.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000395777.6",
"protein_id": "ENSP00000379123.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 303,
"cds_start": 329,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395777.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.425G>T",
"hgvs_p": "p.Ser142Ile",
"transcript": "NM_201431.2",
"protein_id": "NP_958834.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 369,
"cds_start": 425,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201431.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.425G>T",
"hgvs_p": "p.Ser142Ile",
"transcript": "ENST00000342081.7",
"protein_id": "ENSP00000340578.3",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 369,
"cds_start": 425,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342081.7"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Ser125Ile",
"transcript": "ENST00000961593.1",
"protein_id": "ENSP00000631652.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 352,
"cds_start": 374,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961593.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000853549.1",
"protein_id": "ENSP00000523608.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853549.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000853550.1",
"protein_id": "ENSP00000523609.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853550.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000961592.1",
"protein_id": "ENSP00000631651.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961592.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000961596.1",
"protein_id": "ENSP00000631655.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961596.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Ser98Ile",
"transcript": "NM_001270392.1",
"protein_id": "NP_001257321.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 325,
"cds_start": 293,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270392.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "NM_001270391.2",
"protein_id": "NP_001257320.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 303,
"cds_start": 329,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270391.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000853548.1",
"protein_id": "ENSP00000523607.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 303,
"cds_start": 329,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853548.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000961594.1",
"protein_id": "ENSP00000631653.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 303,
"cds_start": 329,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961594.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "ENST00000961595.1",
"protein_id": "ENSP00000631654.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 303,
"cds_start": 329,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961595.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.425G>T",
"hgvs_p": "p.Ser142Ile",
"transcript": "XM_011531687.3",
"protein_id": "XP_011529989.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 425,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531687.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "XM_011531688.2",
"protein_id": "XP_011529990.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531688.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Ser110Ile",
"transcript": "XM_047449709.1",
"protein_id": "XP_047305665.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 337,
"cds_start": 329,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449709.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.425G>T",
"hgvs_p": "p.Ser142Ile",
"transcript": "XM_011531689.4",
"protein_id": "XP_011529991.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 335,
"cds_start": 425,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531689.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "XM_011531690.3",
"protein_id": "XP_011529992.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 279,
"cds_start": 155,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531690.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASSF6",
"gene_hgnc_id": 20796,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "XM_047449710.1",
"protein_id": "XP_047305666.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 279,
"cds_start": 155,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}