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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: 22-40404614-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40404614&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 40404614,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001350048.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "NM_015705.6",
"protein_id": "NP_056520.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 749,
"cds_start": 424,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248929.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015705.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000248929.14",
"protein_id": "ENSP00000248929.8",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 749,
"cds_start": 424,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015705.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248929.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*1662C>T",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"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": "ENST00000639722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284431",
"gene_hgnc_id": null,
"hgvs_c": "n.*1662C>T",
"hgvs_p": null,
"transcript": "ENST00000639722.1",
"protein_id": "ENSP00000492828.1",
"transcript_support_level": 5,
"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": "ENST00000639722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-122C>T",
"hgvs_p": null,
"transcript": "NM_001350048.2",
"protein_id": "NP_001336977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350048.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.-122C>T",
"hgvs_p": null,
"transcript": "XM_047441338.1",
"protein_id": "XP_047297294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": null,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441338.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000956266.1",
"protein_id": "ENSP00000626325.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 772,
"cds_start": 424,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956266.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "NM_001350039.2",
"protein_id": "NP_001336968.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 766,
"cds_start": 424,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350039.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000851447.1",
"protein_id": "ENSP00000521506.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 766,
"cds_start": 424,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851447.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000956259.1",
"protein_id": "ENSP00000626318.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 766,
"cds_start": 424,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956259.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000851459.1",
"protein_id": "ENSP00000521518.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 765,
"cds_start": 424,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851459.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Cys",
"transcript": "ENST00000925009.1",
"protein_id": "ENSP00000595068.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 765,
"cds_start": 421,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925009.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Cys",
"transcript": "ENST00000956267.1",
"protein_id": "ENSP00000626326.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 765,
"cds_start": 421,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956267.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000956262.1",
"protein_id": "ENSP00000626321.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 757,
"cds_start": 424,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956262.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "NM_001350040.2",
"protein_id": "NP_001336969.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 756,
"cds_start": 424,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350040.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000956261.1",
"protein_id": "ENSP00000626320.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 756,
"cds_start": 424,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956261.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000851453.1",
"protein_id": "ENSP00000521512.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 753,
"cds_start": 424,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851453.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000851451.1",
"protein_id": "ENSP00000521510.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 749,
"cds_start": 424,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851451.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000851461.1",
"protein_id": "ENSP00000521520.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 749,
"cds_start": 424,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851461.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000851462.1",
"protein_id": "ENSP00000521521.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 749,
"cds_start": 424,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851462.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142Cys",
"transcript": "ENST00000956258.1",
"protein_id": "ENSP00000626317.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 749,
"cds_start": 424,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956258.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM3",
"gene_hgnc_id": 25228,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141Cys",
"transcript": "ENST00000851448.1",
"protein_id": "ENSP00000521507.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 748,
"cds_start": 421,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"criteria": [
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],
"verdict": "Likely_benign",
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"effects": [
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},
{
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],
"verdict": "Likely_benign",
"transcript": "ENST00000639722.1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}