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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: 19-6002836-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6002836&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6002836,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000635.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "NM_000635.4",
"protein_id": "NP_000626.2",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 723,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303657.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000635.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "ENST00000303657.10",
"protein_id": "ENSP00000306335.4",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 723,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000635.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303657.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "ENST00000359161.7",
"protein_id": "ENSP00000352076.3",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 723,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359161.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "ENST00000926861.1",
"protein_id": "ENSP00000596920.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 730,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926861.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "ENST00000969658.1",
"protein_id": "ENSP00000639717.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 723,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969658.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1478G>A",
"hgvs_p": "p.Arg493Gln",
"transcript": "ENST00000889048.1",
"protein_id": "ENSP00000559107.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 704,
"cds_start": 1478,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889048.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"transcript": "NM_134433.3",
"protein_id": "NP_602309.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 698,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134433.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"transcript": "ENST00000592546.5",
"protein_id": "ENSP00000467166.1",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 698,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592546.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"transcript": "ENST00000889050.1",
"protein_id": "ENSP00000559109.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 698,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889050.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"transcript": "ENST00000969662.1",
"protein_id": "ENSP00000639721.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 698,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969662.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"transcript": "ENST00000969663.1",
"protein_id": "ENSP00000639722.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 698,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969663.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"transcript": "ENST00000969660.1",
"protein_id": "ENSP00000639719.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 687,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969660.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"transcript": "ENST00000969659.1",
"protein_id": "ENSP00000639718.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 683,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969659.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Arg447Gln",
"transcript": "ENST00000889049.1",
"protein_id": "ENSP00000559108.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 658,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889049.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1331G>A",
"hgvs_p": "p.Arg444Gln",
"transcript": "ENST00000969661.1",
"protein_id": "ENSP00000639720.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 655,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969661.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383Gln",
"transcript": "ENST00000926862.1",
"protein_id": "ENSP00000596921.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 594,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926862.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Gln",
"transcript": "XM_047439196.1",
"protein_id": "XP_047295152.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 723,
"cds_start": 1535,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439196.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"transcript": "XM_047439197.1",
"protein_id": "XP_047295153.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 698,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439197.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467Gln",
"transcript": "XM_017027107.2",
"protein_id": "XP_016882596.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 678,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027107.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"transcript": "XM_047439198.1",
"protein_id": "XP_047295154.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 653,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439198.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX2",
"gene_hgnc_id": 9983,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Ala141Ala",
"transcript": "ENST00000589340.1",
"protein_id": "ENSP00000466028.1",
"transcript_support_level": 4,
"aa_start": 141,
"aa_end": null,
"aa_length": 178,
"cds_start": 423,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RANBP3-DT",
"gene_hgnc_id": 55312,
"hgvs_c": "n.113-9284C>T",
"hgvs_p": null,
"transcript": "ENST00000587836.1",
"protein_id": null,
"transcript_support_level": 3,
"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,
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"biotype": "pseudogene",
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}
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"message": null
}