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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: 19-33463032-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33463032&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 33463032,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000244137.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "NM_000285.4",
"protein_id": "NP_000276.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 493,
"cds_start": 634,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "ENST00000244137.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "ENST00000244137.12",
"protein_id": "ENSP00000244137.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 493,
"cds_start": 634,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "NM_000285.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "ENST00000651901.2",
"protein_id": "ENSP00000498922.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 523,
"cds_start": 634,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "ENST00000588328.7",
"protein_id": "ENSP00000468516.4",
"transcript_support_level": 3,
"aa_start": 212,
"aa_end": null,
"aa_length": 515,
"cds_start": 634,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "ENST00000698360.1",
"protein_id": "ENSP00000513683.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 510,
"cds_start": 634,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Ala226Ser",
"transcript": "ENST00000698427.1",
"protein_id": "ENSP00000513714.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 507,
"cds_start": 676,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "ENST00000698361.1",
"protein_id": "ENSP00000513684.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 495,
"cds_start": 634,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.589G>T",
"hgvs_p": "p.Ala197Ser",
"transcript": "ENST00000698359.1",
"protein_id": "ENSP00000513682.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 478,
"cds_start": 589,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Ala148Ser",
"transcript": "NM_001166057.2",
"protein_id": "NP_001159529.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 429,
"cds_start": 442,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Ala148Ser",
"transcript": "ENST00000436370.7",
"protein_id": "ENSP00000391890.2",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 429,
"cds_start": 442,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Ala148Ser",
"transcript": "ENST00000698432.1",
"protein_id": "ENSP00000513718.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 429,
"cds_start": 442,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Ala105Ser",
"transcript": "ENST00000698426.1",
"protein_id": "ENSP00000513713.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 386,
"cds_start": 313,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Ala105Ser",
"transcript": "ENST00000698428.1",
"protein_id": "ENSP00000513715.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 386,
"cds_start": 313,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "ENST00000698362.1",
"protein_id": "ENSP00000513685.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 361,
"cds_start": 634,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Ala212Ser",
"transcript": "ENST00000651646.2",
"protein_id": "ENSP00000498950.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 224,
"cds_start": 634,
"cds_end": null,
"cds_length": 675,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.322G>T",
"hgvs_p": "p.Ala108Ser",
"transcript": "ENST00000698435.1",
"protein_id": "ENSP00000513719.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 194,
"cds_start": 322,
"cds_end": null,
"cds_length": 586,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.269G>T",
"hgvs_p": null,
"transcript": "ENST00000588719.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.*225G>T",
"hgvs_p": null,
"transcript": "ENST00000590408.1",
"protein_id": "ENSP00000476869.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.309G>T",
"hgvs_p": null,
"transcript": "ENST00000590731.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.*293G>T",
"hgvs_p": null,
"transcript": "ENST00000590755.6",
"protein_id": "ENSP00000476667.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.324G>T",
"hgvs_p": null,
"transcript": "ENST00000609145.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.697G>T",
"hgvs_p": null,
"transcript": "ENST00000698363.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.697G>T",
"hgvs_p": null,
"transcript": "ENST00000698364.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1533,
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}
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}