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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: 2-241253433-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241253433&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241253433,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005336.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "NM_005336.6",
"protein_id": "NP_005327.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310931.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005336.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000310931.10",
"protein_id": "ENSP00000312042.4",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005336.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310931.10"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000391975.5",
"protein_id": "ENSP00000375836.1",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391975.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875612.1",
"protein_id": "ENSP00000545671.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1306,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875612.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1256A>T",
"hgvs_p": "p.Asn419Ile",
"transcript": "ENST00000875621.1",
"protein_id": "ENSP00000545680.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875621.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1256A>T",
"hgvs_p": "p.Asn419Ile",
"transcript": "ENST00000944585.1",
"protein_id": "ENSP00000614644.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944585.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "NM_001320965.3",
"protein_id": "NP_001307894.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320965.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "NM_001320966.3",
"protein_id": "NP_001307895.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320966.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "NM_203346.6",
"protein_id": "NP_976221.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203346.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000391976.6",
"protein_id": "ENSP00000375837.2",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391976.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875594.1",
"protein_id": "ENSP00000545653.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875594.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875597.1",
"protein_id": "ENSP00000545656.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875597.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875599.1",
"protein_id": "ENSP00000545658.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875599.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875600.1",
"protein_id": "ENSP00000545659.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875600.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875609.1",
"protein_id": "ENSP00000545668.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875609.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875610.1",
"protein_id": "ENSP00000545669.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875610.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875611.1",
"protein_id": "ENSP00000545670.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875611.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875613.1",
"protein_id": "ENSP00000545672.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875613.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875614.1",
"protein_id": "ENSP00000545673.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875614.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875616.1",
"protein_id": "ENSP00000545675.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875616.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875617.1",
"protein_id": "ENSP00000545676.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875617.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "ENST00000875622.1",
"protein_id": "ENSP00000545681.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
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}
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}