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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: 14-23080076-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23080076&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23080076,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014977.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Ser420Cys",
"transcript": "NM_001386863.1",
"protein_id": "NP_001373792.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1259,
"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": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Ser420Cys",
"transcript": "ENST00000605057.6",
"protein_id": "ENSP00000474349.1",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 1283,
"cds_start": 1259,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1433C>G",
"hgvs_p": "p.Ser478Cys",
"transcript": "ENST00000262710.5",
"protein_id": "ENSP00000262710.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1341,
"cds_start": 1433,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1433C>G",
"hgvs_p": "p.Ser478Cys",
"transcript": "ENST00000555053.5",
"protein_id": "ENSP00000451328.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 1328,
"cds_start": 1433,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1433C>G",
"hgvs_p": "p.Ser478Cys",
"transcript": "NM_014977.4",
"protein_id": "NP_055792.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1341,
"cds_start": 1433,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1433C>G",
"hgvs_p": "p.Ser478Cys",
"transcript": "NM_001164814.2",
"protein_id": "NP_001158286.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 1328,
"cds_start": 1433,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1313C>G",
"hgvs_p": "p.Ser438Cys",
"transcript": "NM_001164815.2",
"protein_id": "NP_001158287.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1301,
"cds_start": 1313,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1313C>G",
"hgvs_p": "p.Ser438Cys",
"transcript": "ENST00000457657.5",
"protein_id": "ENSP00000405677.1",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 1301,
"cds_start": 1313,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Ser420Cys",
"transcript": "ENST00000897553.1",
"protein_id": "ENSP00000567612.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1282,
"cds_start": 1259,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Ser420Cys",
"transcript": "ENST00000941951.1",
"protein_id": "ENSP00000612010.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1259,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000897559.1",
"protein_id": "ENSP00000567618.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1275,
"cds_start": 1139,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Ser420Cys",
"transcript": "ENST00000897552.1",
"protein_id": "ENSP00000567611.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1259,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Ser420Cys",
"transcript": "ENST00000897558.1",
"protein_id": "ENSP00000567617.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1259,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000897554.1",
"protein_id": "ENSP00000567613.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1139,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000916202.1",
"protein_id": "ENSP00000586261.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1240,
"cds_start": 1139,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1259C>G",
"hgvs_p": "p.Ser420Cys",
"transcript": "ENST00000897556.1",
"protein_id": "ENSP00000567615.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1233,
"cds_start": 1259,
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000897555.1",
"protein_id": "ENSP00000567614.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1231,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897555.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000897557.1",
"protein_id": "ENSP00000567616.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897557.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1073C>G",
"hgvs_p": "p.Ser358Cys",
"transcript": "ENST00000916204.1",
"protein_id": "ENSP00000586263.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1221,
"cds_start": 1073,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916204.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000897560.1",
"protein_id": "ENSP00000567619.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1212,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897560.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000897562.1",
"protein_id": "ENSP00000567621.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1205,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897562.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACIN1",
"gene_hgnc_id": 17066,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Ser380Cys",
"transcript": "ENST00000916201.1",
"protein_id": "ENSP00000586260.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1204,
"cds_start": 1139,
"cds_end": null,
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}