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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: 12-51048366-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51048366&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51048366,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001243689.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_015416.5",
"protein_id": "NP_056231.3",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 360,
"cds_start": 10,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262055.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015416.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000262055.9",
"protein_id": "ENSP00000262055.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 360,
"cds_start": 10,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015416.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262055.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.-52T>C",
"hgvs_p": null,
"transcript": "ENST00000550929.5",
"protein_id": "ENSP00000450163.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550929.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "n.10T>C",
"hgvs_p": null,
"transcript": "ENST00000547318.5",
"protein_id": "ENSP00000448442.1",
"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": "ENST00000547318.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000882989.1",
"protein_id": "ENSP00000553048.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 405,
"cds_start": 10,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882989.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000950003.1",
"protein_id": "ENSP00000620062.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 404,
"cds_start": 10,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950003.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000882986.1",
"protein_id": "ENSP00000553045.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 392,
"cds_start": 10,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882986.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_001243689.2",
"protein_id": "NP_001230618.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 373,
"cds_start": 10,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243689.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000418425.6",
"protein_id": "ENSP00000389903.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 373,
"cds_start": 10,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418425.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_001351315.2",
"protein_id": "NP_001338244.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 367,
"cds_start": 10,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351315.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000882983.1",
"protein_id": "ENSP00000553042.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 359,
"cds_start": 10,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882983.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000950000.1",
"protein_id": "ENSP00000620060.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 359,
"cds_start": 10,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950000.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000882984.1",
"protein_id": "ENSP00000553043.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 358,
"cds_start": 10,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882984.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000950004.1",
"protein_id": "ENSP00000620063.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 357,
"cds_start": 10,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950004.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000950005.1",
"protein_id": "ENSP00000620064.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 350,
"cds_start": 10,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950005.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_001351316.2",
"protein_id": "NP_001338245.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 336,
"cds_start": 10,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351316.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_001351317.2",
"protein_id": "NP_001338246.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 321,
"cds_start": 10,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351317.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000926726.1",
"protein_id": "ENSP00000596785.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 318,
"cds_start": 10,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926726.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000950002.1",
"protein_id": "ENSP00000620061.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 316,
"cds_start": 10,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950002.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000882985.1",
"protein_id": "ENSP00000553044.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 308,
"cds_start": 10,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882985.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "NM_001351321.2",
"protein_id": "NP_001338250.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 270,
"cds_start": 10,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351321.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETMD1",
"gene_hgnc_id": 24241,
"hgvs_c": "c.10T>C",
"hgvs_p": "p.Ser4Pro",
"transcript": "ENST00000882987.1",
"protein_id": "ENSP00000553046.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 270,
"cds_start": 10,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882987.1"
},
{
"aa_ref": "S",
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{
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}
],
"message": null
}