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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: 14-23061348-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23061348&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23061348,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014977.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Arg1125His",
"transcript": "NM_001386863.1",
"protein_id": "NP_001373792.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000605057.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386863.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Arg1125His",
"transcript": "ENST00000605057.6",
"protein_id": "ENSP00000474349.1",
"transcript_support_level": 1,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386863.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605057.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Arg1183His",
"transcript": "ENST00000262710.5",
"protein_id": "ENSP00000262710.1",
"transcript_support_level": 1,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262710.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3509G>A",
"hgvs_p": "p.Arg1170His",
"transcript": "ENST00000555053.5",
"protein_id": "ENSP00000451328.1",
"transcript_support_level": 1,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3509,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555053.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"transcript": "ENST00000338631.10",
"protein_id": "ENSP00000345541.6",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 614,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338631.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "ENST00000357481.6",
"protein_id": "ENSP00000350073.2",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 583,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357481.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "ENST00000397341.7",
"protein_id": "ENSP00000380502.3",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 583,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397341.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "n.*2371G>A",
"hgvs_p": null,
"transcript": "ENST00000473758.5",
"protein_id": "ENSP00000483298.1",
"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": "ENST00000473758.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "n.*2371G>A",
"hgvs_p": null,
"transcript": "ENST00000473758.5",
"protein_id": "ENSP00000483298.1",
"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": "ENST00000473758.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Arg1183His",
"transcript": "NM_014977.4",
"protein_id": "NP_055792.2",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014977.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3509G>A",
"hgvs_p": "p.Arg1170His",
"transcript": "NM_001164814.2",
"protein_id": "NP_001158286.2",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3509,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164814.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3428G>A",
"hgvs_p": "p.Arg1143His",
"transcript": "NM_001164815.2",
"protein_id": "NP_001158287.2",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164815.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3428G>A",
"hgvs_p": "p.Arg1143His",
"transcript": "ENST00000457657.5",
"protein_id": "ENSP00000405677.1",
"transcript_support_level": 5,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457657.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3371G>A",
"hgvs_p": "p.Arg1124His",
"transcript": "ENST00000897553.1",
"protein_id": "ENSP00000567612.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3371,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897553.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3365G>A",
"hgvs_p": "p.Arg1122His",
"transcript": "ENST00000941951.1",
"protein_id": "ENSP00000612010.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3365,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941951.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3350G>A",
"hgvs_p": "p.Arg1117His",
"transcript": "ENST00000897559.1",
"protein_id": "ENSP00000567618.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897559.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3338G>A",
"hgvs_p": "p.Arg1113His",
"transcript": "ENST00000897552.1",
"protein_id": "ENSP00000567611.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3338,
"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": "ENST00000897552.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086His",
"transcript": "ENST00000897558.1",
"protein_id": "ENSP00000567617.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3257,
"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": "ENST00000897558.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3251G>A",
"hgvs_p": "p.Arg1084His",
"transcript": "ENST00000897554.1",
"protein_id": "ENSP00000567613.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897554.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3245G>A",
"hgvs_p": "p.Arg1082His",
"transcript": "ENST00000916202.1",
"protein_id": "ENSP00000586261.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3245,
"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": "ENST00000916202.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3224G>A",
"hgvs_p": "p.Arg1075His",
"transcript": "ENST00000897556.1",
"protein_id": "ENSP00000567615.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3224,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897556.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073His",
"transcript": "ENST00000897555.1",
"protein_id": "ENSP00000567614.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3218,
"cds_end": null,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}