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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: 2-200877033-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200877033&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200877033,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032472.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "NM_130906.3",
"protein_id": "NP_570981.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "ENST00000392283.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130906.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000392283.9",
"protein_id": "ENSP00000376107.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "NM_130906.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392283.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000286175.12",
"protein_id": "ENSP00000286175.8",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286175.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.542A>G",
"hgvs_p": null,
"transcript": "ENST00000465823.5",
"protein_id": null,
"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": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465823.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Asn101Ser",
"transcript": "ENST00000409264.6",
"protein_id": "ENSP00000386893.2",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 180,
"cds_start": 302,
"cds_end": null,
"cds_length": 543,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409264.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "NM_032472.4",
"protein_id": "NP_115861.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032472.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000409449.5",
"protein_id": "ENSP00000387012.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409449.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000899880.1",
"protein_id": "ENSP00000569939.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899880.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000899882.1",
"protein_id": "ENSP00000569941.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899882.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000899885.1",
"protein_id": "ENSP00000569944.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899885.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000917429.1",
"protein_id": "ENSP00000587488.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917429.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000917431.1",
"protein_id": "ENSP00000587490.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917431.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000917439.1",
"protein_id": "ENSP00000587498.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917439.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000917442.1",
"protein_id": "ENSP00000587501.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917442.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000952533.1",
"protein_id": "ENSP00000622592.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952533.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Asn86Ser",
"transcript": "ENST00000952534.1",
"protein_id": "ENSP00000622593.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 165,
"cds_start": 257,
"cds_end": null,
"cds_length": 498,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952534.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000899879.1",
"protein_id": "ENSP00000569938.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899879.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000899881.1",
"protein_id": "ENSP00000569940.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899881.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000899883.1",
"protein_id": "ENSP00000569942.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899883.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000899884.1",
"protein_id": "ENSP00000569943.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899884.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000899886.1",
"protein_id": "ENSP00000569945.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899886.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.245A>G",
"hgvs_p": "p.Asn82Ser",
"transcript": "ENST00000899887.1",
"protein_id": "ENSP00000569946.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 161,
"cds_start": 245,
"cds_end": null,
"cds_length": 486,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899887.1"
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}