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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: 2-43230958-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43230958&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43230958,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022065.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "NM_022065.5",
"protein_id": "NP_071348.3",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405975.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022065.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "ENST00000405975.7",
"protein_id": "ENSP00000386088.2",
"transcript_support_level": 1,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022065.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405975.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "ENST00000405006.8",
"protein_id": "ENSP00000385995.4",
"transcript_support_level": 1,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405006.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "NM_001083953.2",
"protein_id": "NP_001077422.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083953.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "NM_001345925.2",
"protein_id": "NP_001332854.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345925.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "ENST00000855634.1",
"protein_id": "ENSP00000525693.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855634.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "ENST00000915746.1",
"protein_id": "ENSP00000585805.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915746.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5852C>G",
"hgvs_p": "p.Ala1951Gly",
"transcript": "ENST00000944893.1",
"protein_id": "ENSP00000614952.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5852,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944893.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5849C>G",
"hgvs_p": "p.Ala1950Gly",
"transcript": "NM_001345923.2",
"protein_id": "NP_001332852.1",
"transcript_support_level": null,
"aa_start": 1950,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5849,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345923.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5849C>G",
"hgvs_p": "p.Ala1950Gly",
"transcript": "ENST00000855632.1",
"protein_id": "ENSP00000525691.1",
"transcript_support_level": null,
"aa_start": 1950,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5849,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855632.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5849C>G",
"hgvs_p": "p.Ala1950Gly",
"transcript": "ENST00000855637.1",
"protein_id": "ENSP00000525696.1",
"transcript_support_level": null,
"aa_start": 1950,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5849,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855637.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5732C>G",
"hgvs_p": "p.Ala1911Gly",
"transcript": "ENST00000855630.1",
"protein_id": "ENSP00000525689.1",
"transcript_support_level": null,
"aa_start": 1911,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5732,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855630.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5732C>G",
"hgvs_p": "p.Ala1911Gly",
"transcript": "ENST00000855635.1",
"protein_id": "ENSP00000525694.1",
"transcript_support_level": null,
"aa_start": 1911,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5732,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855635.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5729C>G",
"hgvs_p": "p.Ala1910Gly",
"transcript": "NM_001345924.2",
"protein_id": "NP_001332853.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5729,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345924.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5729C>G",
"hgvs_p": "p.Ala1910Gly",
"transcript": "ENST00000855633.1",
"protein_id": "ENSP00000525692.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5729,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855633.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5690C>G",
"hgvs_p": "p.Ala1897Gly",
"transcript": "ENST00000944894.1",
"protein_id": "ENSP00000614953.1",
"transcript_support_level": null,
"aa_start": 1897,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5690,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944894.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5645C>G",
"hgvs_p": "p.Ala1882Gly",
"transcript": "ENST00000944896.1",
"protein_id": "ENSP00000614955.1",
"transcript_support_level": null,
"aa_start": 1882,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5645,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944896.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5630C>G",
"hgvs_p": "p.Ala1877Gly",
"transcript": "ENST00000855636.1",
"protein_id": "ENSP00000525695.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5630,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855636.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5630C>G",
"hgvs_p": "p.Ala1877Gly",
"transcript": "ENST00000855639.1",
"protein_id": "ENSP00000525698.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5630,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855639.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5600C>G",
"hgvs_p": "p.Ala1867Gly",
"transcript": "ENST00000944895.1",
"protein_id": "ENSP00000614954.1",
"transcript_support_level": null,
"aa_start": 1867,
"aa_end": null,
"aa_length": 1869,
"cds_start": 5600,
"cds_end": null,
"cds_length": 5610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944895.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5489C>G",
"hgvs_p": "p.Ala1830Gly",
"transcript": "ENST00000855631.1",
"protein_id": "ENSP00000525690.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5489,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855631.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5489C>G",
"hgvs_p": "p.Ala1830Gly",
"transcript": "ENST00000855638.1",
"protein_id": "ENSP00000525697.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5489,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"computational_score_selected": 0.003139972686767578,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022065.5",
"gene_symbol": "THADA",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Ala1951Gly"
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{
"score": -9,
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"criteria": [
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"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000717221.1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.426G>C",
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}
],
"clinvar_disease": "THADA-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "THADA-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}