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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: 2-219629297-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219629297&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219629297,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_201574.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "NM_005070.4",
"protein_id": "NP_005061.3",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1232,
"cds_start": 371,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358055.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005070.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000358055.8",
"protein_id": "ENSP00000350756.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 1232,
"cds_start": 371,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005070.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358055.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000273063.10",
"protein_id": "ENSP00000273063.6",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 1259,
"cds_start": 371,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273063.10"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "n.371C>T",
"hgvs_p": null,
"transcript": "ENST00000425141.5",
"protein_id": "ENSP00000396863.1",
"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": "ENST00000425141.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000912189.1",
"protein_id": "ENSP00000582248.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1271,
"cds_start": 371,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912189.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955483.1",
"protein_id": "ENSP00000625542.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1271,
"cds_start": 371,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955483.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955495.1",
"protein_id": "ENSP00000625554.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1263,
"cds_start": 371,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955495.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000862532.1",
"protein_id": "ENSP00000532591.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1261,
"cds_start": 371,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862532.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "NM_001326559.2",
"protein_id": "NP_001313488.2",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1259,
"cds_start": 371,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326559.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "NM_201574.3",
"protein_id": "NP_963868.3",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1259,
"cds_start": 371,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201574.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000862529.1",
"protein_id": "ENSP00000532588.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1259,
"cds_start": 371,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862529.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000862530.1",
"protein_id": "ENSP00000532589.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1259,
"cds_start": 371,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862530.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000862540.1",
"protein_id": "ENSP00000532599.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1259,
"cds_start": 371,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862540.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955490.1",
"protein_id": "ENSP00000625549.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1258,
"cds_start": 371,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955490.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955491.1",
"protein_id": "ENSP00000625550.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1251,
"cds_start": 371,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955491.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955498.1",
"protein_id": "ENSP00000625557.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1251,
"cds_start": 371,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955498.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955489.1",
"protein_id": "ENSP00000625548.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1244,
"cds_start": 371,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955489.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955497.1",
"protein_id": "ENSP00000625556.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1244,
"cds_start": 371,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955497.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955500.1",
"protein_id": "ENSP00000625559.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1244,
"cds_start": 371,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955500.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955503.1",
"protein_id": "ENSP00000625562.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1240,
"cds_start": 371,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955503.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Pro129Leu",
"transcript": "ENST00000862534.1",
"protein_id": "ENSP00000532593.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1237,
"cds_start": 386,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862534.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A3",
"gene_hgnc_id": 11029,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "ENST00000955487.1",
"protein_id": "ENSP00000625546.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1234,
"cds_start": 371,
"cds_end": null,
"cds_length": 3705,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}