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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: 11-498598-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=498598&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 498598,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002939.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "NM_203387.3",
"protein_id": "NP_976321.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 815,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354420.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203387.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000354420.7",
"protein_id": "ENSP00000346402.2",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 815,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203387.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354420.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000356187.9",
"protein_id": "ENSP00000348515.5",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 815,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356187.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000397604.7",
"protein_id": "ENSP00000380729.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 815,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397604.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000397615.6",
"protein_id": "ENSP00000380739.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 815,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397615.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000438658.6",
"protein_id": "ENSP00000416589.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 815,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438658.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000534797.5",
"protein_id": "ENSP00000433999.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 815,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534797.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "n.2535G>A",
"hgvs_p": null,
"transcript": "ENST00000525522.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000525522.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Gly287Asp",
"transcript": "ENST00000972506.1",
"protein_id": "ENSP00000642565.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 476,
"cds_start": 860,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972506.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000903640.1",
"protein_id": "ENSP00000573699.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 469,
"cds_start": 815,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903640.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Gly272Asp",
"transcript": "ENST00000972488.1",
"protein_id": "ENSP00000642547.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 469,
"cds_start": 815,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972488.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Gly280Asp",
"transcript": "ENST00000972509.1",
"protein_id": "ENSP00000642568.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 469,
"cds_start": 839,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972509.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000903635.1",
"protein_id": "ENSP00000573694.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903635.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000903639.1",
"protein_id": "ENSP00000573698.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903639.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000903647.1",
"protein_id": "ENSP00000573706.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903647.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000903662.1",
"protein_id": "ENSP00000573721.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903662.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000903664.1",
"protein_id": "ENSP00000573723.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903664.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000940517.1",
"protein_id": "ENSP00000610576.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940517.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000972481.1",
"protein_id": "ENSP00000642540.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972481.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000972491.1",
"protein_id": "ENSP00000642550.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972491.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000972492.1",
"protein_id": "ENSP00000642551.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972492.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNH1",
"gene_hgnc_id": 10074,
"hgvs_c": "c.830G>A",
"hgvs_p": "p.Gly277Asp",
"transcript": "ENST00000972503.1",
"protein_id": "ENSP00000642562.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 830,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}