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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: 2-130152743-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130152743&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 130152743,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017751.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2296G>A",
"hgvs_p": "p.Gly766Ser",
"transcript": "NM_017951.5",
"protein_id": "NP_060421.3",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 827,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000680298.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017951.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2296G>A",
"hgvs_p": "p.Gly766Ser",
"transcript": "ENST00000680298.1",
"protein_id": "ENSP00000506463.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 827,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017951.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680298.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2413G>A",
"hgvs_p": "p.Gly805Ser",
"transcript": "ENST00000409031.5",
"protein_id": "ENSP00000386531.1",
"transcript_support_level": 1,
"aa_start": 805,
"aa_end": null,
"aa_length": 866,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2000G>A",
"hgvs_p": null,
"transcript": "ENST00000454468.5",
"protein_id": "ENSP00000407591.1",
"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": "ENST00000454468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.1236G>A",
"hgvs_p": null,
"transcript": "ENST00000491128.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "n.*2000G>A",
"hgvs_p": null,
"transcript": "ENST00000454468.5",
"protein_id": "ENSP00000407591.1",
"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": "ENST00000454468.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Gly783Ser",
"transcript": "ENST00000680679.1",
"protein_id": "ENSP00000505716.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 844,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680679.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Gly776Ser",
"transcript": "NM_017751.4",
"protein_id": "NP_060221.2",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 837,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017751.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Gly776Ser",
"transcript": "ENST00000351288.10",
"protein_id": "ENSP00000259217.8",
"transcript_support_level": 2,
"aa_start": 776,
"aa_end": null,
"aa_length": 837,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351288.10"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2296G>A",
"hgvs_p": "p.Gly766Ser",
"transcript": "ENST00000883567.1",
"protein_id": "ENSP00000553626.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 827,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883567.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2296G>A",
"hgvs_p": "p.Gly766Ser",
"transcript": "ENST00000951021.1",
"protein_id": "ENSP00000621080.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 827,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951021.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Gly760Ser",
"transcript": "ENST00000883569.1",
"protein_id": "ENSP00000553628.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 821,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883569.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Gly723Ser",
"transcript": "ENST00000883570.1",
"protein_id": "ENSP00000553629.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 784,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883570.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Ser",
"transcript": "NM_001171083.2",
"protein_id": "NP_001164554.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 764,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171083.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Gly703Ser",
"transcript": "ENST00000431183.6",
"protein_id": "ENSP00000405187.2",
"transcript_support_level": 2,
"aa_start": 703,
"aa_end": null,
"aa_length": 764,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431183.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Gly694Ser",
"transcript": "ENST00000883568.1",
"protein_id": "ENSP00000553627.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 755,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883568.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2035G>A",
"hgvs_p": "p.Gly679Ser",
"transcript": "ENST00000439886.5",
"protein_id": "ENSP00000401648.1",
"transcript_support_level": 2,
"aa_start": 679,
"aa_end": null,
"aa_length": 740,
"cds_start": 2035,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439886.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Gly367Ser",
"transcript": "ENST00000680401.1",
"protein_id": "ENSP00000506367.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 428,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680401.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Gly883Ser",
"transcript": "XM_011511443.3",
"protein_id": "XP_011509745.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 944,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511443.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Gly854Ser",
"transcript": "XM_011511444.4",
"protein_id": "XP_011509746.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 915,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511444.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.2020G>A",
"hgvs_p": "p.Gly674Ser",
"transcript": "XM_047444938.1",
"protein_id": "XP_047300894.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 735,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444938.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD4",
"gene_hgnc_id": 32949,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Gly546Ser",
"transcript": "XM_024452978.2",
"protein_id": "XP_024308746.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 607,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
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"phenotype_combined": "Inborn genetic diseases",
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}
],
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}