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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: 1-91683783-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91683783&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91683783,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003243.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Gly838Ser",
"transcript": "NM_003243.5",
"protein_id": "NP_003234.2",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 851,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000212355.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003243.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Gly838Ser",
"transcript": "ENST00000212355.9",
"protein_id": "ENSP00000212355.4",
"transcript_support_level": 1,
"aa_start": 838,
"aa_end": null,
"aa_length": 851,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003243.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000212355.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Gly838Ser",
"transcript": "ENST00000525962.5",
"protein_id": "ENSP00000436127.1",
"transcript_support_level": 1,
"aa_start": 838,
"aa_end": null,
"aa_length": 851,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525962.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Gly837Ser",
"transcript": "ENST00000370399.6",
"protein_id": "ENSP00000359426.2",
"transcript_support_level": 1,
"aa_start": 837,
"aa_end": null,
"aa_length": 850,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370399.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Gly837Ser",
"transcript": "ENST00000465892.6",
"protein_id": "ENSP00000432638.1",
"transcript_support_level": 1,
"aa_start": 837,
"aa_end": null,
"aa_length": 850,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465892.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*2459G>A",
"hgvs_p": null,
"transcript": "ENST00000532540.5",
"protein_id": "ENSP00000434994.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000532540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*2230G>A",
"hgvs_p": null,
"transcript": "ENST00000533089.5",
"protein_id": "ENSP00000433477.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000533089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*2459G>A",
"hgvs_p": null,
"transcript": "ENST00000532540.5",
"protein_id": "ENSP00000434994.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000532540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "n.*2230G>A",
"hgvs_p": null,
"transcript": "ENST00000533089.5",
"protein_id": "ENSP00000433477.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000533089.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Gly838Ser",
"transcript": "ENST00000868428.1",
"protein_id": "ENSP00000538487.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 851,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868428.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Gly837Ser",
"transcript": "NM_001195683.2",
"protein_id": "NP_001182612.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 850,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195683.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Gly837Ser",
"transcript": "NM_001195684.1",
"protein_id": "NP_001182613.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 850,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195684.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Gly837Ser",
"transcript": "ENST00000868418.1",
"protein_id": "ENSP00000538477.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 850,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868418.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Gly837Ser",
"transcript": "ENST00000868431.1",
"protein_id": "ENSP00000538490.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 850,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868431.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Gly836Ser",
"transcript": "ENST00000868420.1",
"protein_id": "ENSP00000538479.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 849,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868420.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Gly836Ser",
"transcript": "ENST00000868425.1",
"protein_id": "ENSP00000538484.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 849,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868425.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Gly824Ser",
"transcript": "ENST00000868417.1",
"protein_id": "ENSP00000538476.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 837,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868417.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2470G>A",
"hgvs_p": "p.Gly824Ser",
"transcript": "ENST00000868424.1",
"protein_id": "ENSP00000538483.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 837,
"cds_start": 2470,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868424.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2467G>A",
"hgvs_p": "p.Gly823Ser",
"transcript": "ENST00000868419.1",
"protein_id": "ENSP00000538478.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 836,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868419.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2467G>A",
"hgvs_p": "p.Gly823Ser",
"transcript": "ENST00000868422.1",
"protein_id": "ENSP00000538481.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 836,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868422.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2374G>A",
"hgvs_p": "p.Gly792Ser",
"transcript": "ENST00000868427.1",
"protein_id": "ENSP00000538486.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 805,
"cds_start": 2374,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868427.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR3",
"gene_hgnc_id": 11774,
"hgvs_c": "c.2374G>A",
"hgvs_p": "p.Gly792Ser",
"transcript": "ENST00000944334.1",
"protein_id": "ENSP00000614393.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 805,
"cds_start": 2374,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}