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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: 6-32039802-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32039802&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32039802,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000500.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "NM_000500.9",
"protein_id": "NP_000491.4",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 495,
"cds_start": 705,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644719.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000500.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000644719.2",
"protein_id": "ENSP00000496625.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 495,
"cds_start": 705,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000500.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644719.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000960600.1",
"protein_id": "ENSP00000630659.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 507,
"cds_start": 705,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960600.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000960597.1",
"protein_id": "ENSP00000630656.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 498,
"cds_start": 705,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960597.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000960601.1",
"protein_id": "ENSP00000630660.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 496,
"cds_start": 705,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960601.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000960596.1",
"protein_id": "ENSP00000630655.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 495,
"cds_start": 705,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960596.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000960599.1",
"protein_id": "ENSP00000630658.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 494,
"cds_start": 705,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960599.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000960595.1",
"protein_id": "ENSP00000630654.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 493,
"cds_start": 705,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960595.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.705T>G",
"hgvs_p": "p.Asp235Glu",
"transcript": "ENST00000960605.1",
"protein_id": "ENSP00000630664.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 492,
"cds_start": 705,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960605.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.648T>G",
"hgvs_p": "p.Asp216Glu",
"transcript": "ENST00000960598.1",
"protein_id": "ENSP00000630657.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 476,
"cds_start": 648,
"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": "ENST00000960598.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.615T>G",
"hgvs_p": "p.Asp205Glu",
"transcript": "ENST00000960604.1",
"protein_id": "ENSP00000630663.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 468,
"cds_start": 615,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960604.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.615T>G",
"hgvs_p": "p.Asp205Glu",
"transcript": "NM_001128590.4",
"protein_id": "NP_001122062.3",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 465,
"cds_start": 615,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128590.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.615T>G",
"hgvs_p": "p.Asp205Glu",
"transcript": "ENST00000435122.3",
"protein_id": "ENSP00000415043.2",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 465,
"cds_start": 615,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435122.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.603T>G",
"hgvs_p": "p.Asp201Glu",
"transcript": "ENST00000960607.1",
"protein_id": "ENSP00000630666.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 461,
"cds_start": 603,
"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": "ENST00000960607.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.576T>G",
"hgvs_p": "p.Asp192Glu",
"transcript": "ENST00000960602.1",
"protein_id": "ENSP00000630661.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 452,
"cds_start": 576,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960602.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.300T>G",
"hgvs_p": "p.Asp100Glu",
"transcript": "NM_001368143.2",
"protein_id": "NP_001355072.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 360,
"cds_start": 300,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368143.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.300T>G",
"hgvs_p": "p.Asp100Glu",
"transcript": "NM_001368144.2",
"protein_id": "NP_001355073.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 360,
"cds_start": 300,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368144.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.651+155T>G",
"hgvs_p": null,
"transcript": "ENST00000960603.1",
"protein_id": "ENSP00000630662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"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": "ENST00000960603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.561+155T>G",
"hgvs_p": null,
"transcript": "ENST00000960606.1",
"protein_id": "ENSP00000630665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960606.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.394T>G",
"hgvs_p": null,
"transcript": "ENST00000462278.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000462278.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.*397T>G",
"hgvs_p": null,
"transcript": "ENST00000466779.5",
"protein_id": "ENSP00000417321.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000466779.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.756T>G",
"hgvs_p": null,
"transcript": "ENST00000466879.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000466879.5"
},
{
"aa_ref": null,
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"splice_prediction_selected": "Benign",
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{
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"PP2",
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}