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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: 12-9072799-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9072799&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9072799,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000014.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3829C>G",
"hgvs_p": "p.Gln1277Glu",
"transcript": "NM_000014.6",
"protein_id": "NP_000005.3",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3829,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318602.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000014.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3829C>G",
"hgvs_p": "p.Gln1277Glu",
"transcript": "ENST00000318602.12",
"protein_id": "ENSP00000323929.8",
"transcript_support_level": 1,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3829,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000014.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318602.12"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3967C>G",
"hgvs_p": "p.Gln1323Glu",
"transcript": "ENST00000891833.1",
"protein_id": "ENSP00000561892.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1520,
"cds_start": 3967,
"cds_end": null,
"cds_length": 4563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891833.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3829C>G",
"hgvs_p": "p.Gln1277Glu",
"transcript": "ENST00000956132.1",
"protein_id": "ENSP00000626191.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1501,
"cds_start": 3829,
"cds_end": null,
"cds_length": 4506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956132.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3859C>G",
"hgvs_p": "p.Gln1287Glu",
"transcript": "ENST00000956134.1",
"protein_id": "ENSP00000626193.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3859,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956134.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3829C>G",
"hgvs_p": "p.Gln1277Glu",
"transcript": "NM_001347423.2",
"protein_id": "NP_001334352.2",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3829,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347423.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3829C>G",
"hgvs_p": "p.Gln1277Glu",
"transcript": "ENST00000891824.1",
"protein_id": "ENSP00000561883.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3829,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891824.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3826C>G",
"hgvs_p": "p.Gln1276Glu",
"transcript": "ENST00000891825.1",
"protein_id": "ENSP00000561884.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3826,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891825.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3820C>G",
"hgvs_p": "p.Gln1274Glu",
"transcript": "ENST00000891834.1",
"protein_id": "ENSP00000561893.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891834.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3820C>G",
"hgvs_p": "p.Gln1274Glu",
"transcript": "ENST00000956135.1",
"protein_id": "ENSP00000626194.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956135.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3808C>G",
"hgvs_p": "p.Gln1270Glu",
"transcript": "ENST00000891829.1",
"protein_id": "ENSP00000561888.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1467,
"cds_start": 3808,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891829.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3790C>G",
"hgvs_p": "p.Gln1264Glu",
"transcript": "ENST00000956133.1",
"protein_id": "ENSP00000626192.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956133.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3667C>G",
"hgvs_p": "p.Gln1223Glu",
"transcript": "ENST00000956136.1",
"protein_id": "ENSP00000626195.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956136.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3652C>G",
"hgvs_p": "p.Gln1218Glu",
"transcript": "ENST00000891826.1",
"protein_id": "ENSP00000561885.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891826.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3601C>G",
"hgvs_p": "p.Gln1201Glu",
"transcript": "ENST00000891831.1",
"protein_id": "ENSP00000561890.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3601,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891831.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3529C>G",
"hgvs_p": "p.Gln1177Glu",
"transcript": "NM_001347424.2",
"protein_id": "NP_001334353.2",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3529,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347424.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3433C>G",
"hgvs_p": "p.Gln1145Glu",
"transcript": "ENST00000891827.1",
"protein_id": "ENSP00000561886.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3433,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891827.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3379C>G",
"hgvs_p": "p.Gln1127Glu",
"transcript": "NM_001347425.2",
"protein_id": "NP_001334354.2",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3379,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347425.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3262C>G",
"hgvs_p": "p.Gln1088Glu",
"transcript": "ENST00000891828.1",
"protein_id": "ENSP00000561887.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891828.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.496C>G",
"hgvs_p": "p.Gln166Glu",
"transcript": "ENST00000891835.1",
"protein_id": "ENSP00000561894.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 363,
"cds_start": 496,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891835.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3829C>G",
"hgvs_p": "p.Gln1277Glu",
"transcript": "XM_006719056.4",
"protein_id": "XP_006719119.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3829,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719056.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3757-75C>G",
"hgvs_p": null,
"transcript": "ENST00000891830.1",
"protein_id": "ENSP00000561889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": null,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
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{
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{
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}
],
"message": null
}