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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: 10-56358655-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=56358655&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 56358655,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007057.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Glu231Asp",
"transcript": "NM_007057.4",
"protein_id": "NP_008988.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 277,
"cds_start": 693,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373944.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007057.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000373944.8",
"protein_id": "ENSP00000363055.3",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 277,
"cds_start": 693,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373944.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000318387.7",
"protein_id": "ENSP00000322850.3",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 277,
"cds_start": 693,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318387.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.726G>C",
"hgvs_p": "p.Glu242Asp",
"transcript": "ENST00000920699.1",
"protein_id": "ENSP00000590758.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 288,
"cds_start": 726,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920699.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Glu232Asp",
"transcript": "ENST00000899407.1",
"protein_id": "ENSP00000569466.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 278,
"cds_start": 696,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899407.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Glu231Asp",
"transcript": "NM_032997.3",
"protein_id": "NP_127490.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 277,
"cds_start": 693,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032997.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000395405.5",
"protein_id": "ENSP00000378801.1",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 277,
"cds_start": 693,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395405.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.693G>C",
"hgvs_p": "p.Glu231Asp",
"transcript": "ENST00000899408.1",
"protein_id": "ENSP00000569467.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 277,
"cds_start": 693,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899408.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.690G>C",
"hgvs_p": "p.Glu230Asp",
"transcript": "ENST00000920701.1",
"protein_id": "ENSP00000590760.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 276,
"cds_start": 690,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920701.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.690G>C",
"hgvs_p": "p.Glu230Asp",
"transcript": "ENST00000955112.1",
"protein_id": "ENSP00000625171.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 276,
"cds_start": 690,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955112.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.678G>C",
"hgvs_p": "p.Glu226Asp",
"transcript": "ENST00000920702.1",
"protein_id": "ENSP00000590761.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 272,
"cds_start": 678,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920702.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.654G>C",
"hgvs_p": "p.Glu218Asp",
"transcript": "ENST00000920706.1",
"protein_id": "ENSP00000590765.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 264,
"cds_start": 654,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920706.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.654G>C",
"hgvs_p": "p.Glu218Asp",
"transcript": "ENST00000920707.1",
"protein_id": "ENSP00000590766.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 264,
"cds_start": 654,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920707.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.636G>C",
"hgvs_p": "p.Glu212Asp",
"transcript": "ENST00000920700.1",
"protein_id": "ENSP00000590759.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 636,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920700.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.636G>C",
"hgvs_p": "p.Glu212Asp",
"transcript": "ENST00000920709.1",
"protein_id": "ENSP00000590768.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 636,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920709.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.570G>C",
"hgvs_p": "p.Glu190Asp",
"transcript": "ENST00000899412.1",
"protein_id": "ENSP00000569471.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 236,
"cds_start": 570,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899412.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.570G>C",
"hgvs_p": "p.Glu190Asp",
"transcript": "ENST00000920697.1",
"protein_id": "ENSP00000590756.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 236,
"cds_start": 570,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920697.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.567G>C",
"hgvs_p": "p.Glu189Asp",
"transcript": "ENST00000920710.1",
"protein_id": "ENSP00000590769.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 235,
"cds_start": 567,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920710.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.564G>C",
"hgvs_p": "p.Glu188Asp",
"transcript": "ENST00000920698.1",
"protein_id": "ENSP00000590757.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 234,
"cds_start": 564,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920698.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.552G>C",
"hgvs_p": "p.Glu184Asp",
"transcript": "NM_001005413.1",
"protein_id": "NP_001005413.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 230,
"cds_start": 552,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005413.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.552G>C",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000361148.6",
"protein_id": "ENSP00000354921.6",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 230,
"cds_start": 552,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361148.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZWINT",
"gene_hgnc_id": 13195,
"hgvs_c": "c.552G>C",
"hgvs_p": "p.Glu184Asp",
"transcript": "ENST00000899410.1",
"protein_id": "ENSP00000569469.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 230,
"cds_start": 552,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899410.1"
},
{
"aa_ref": "E",
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}