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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: 4-73418211-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73418211&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 73418211,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000477.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "NM_000477.7",
"protein_id": "NP_000468.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295897.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000477.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000295897.9",
"protein_id": "ENSP00000295897.4",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000477.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295897.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Asp326Asn",
"transcript": "ENST00000415165.6",
"protein_id": "ENSP00000401820.2",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 417,
"cds_start": 976,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415165.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1615G>A",
"hgvs_p": "p.Asp539Asn",
"transcript": "ENST00000876051.1",
"protein_id": "ENSP00000546110.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 630,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876051.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Asp526Asn",
"transcript": "ENST00000876034.1",
"protein_id": "ENSP00000546093.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 617,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876034.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876006.1",
"protein_id": "ENSP00000546065.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876006.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876007.1",
"protein_id": "ENSP00000546066.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876007.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876008.1",
"protein_id": "ENSP00000546067.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876008.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876010.1",
"protein_id": "ENSP00000546069.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876010.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876014.1",
"protein_id": "ENSP00000546073.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876014.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876018.1",
"protein_id": "ENSP00000546077.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876018.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876019.1",
"protein_id": "ENSP00000546078.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876019.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876041.1",
"protein_id": "ENSP00000546100.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876041.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876047.1",
"protein_id": "ENSP00000546106.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876047.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000876049.1",
"protein_id": "ENSP00000546108.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 609,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876049.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Asp518Asn",
"transcript": "ENST00000509063.5",
"protein_id": "ENSP00000422784.1",
"transcript_support_level": 5,
"aa_start": 518,
"aa_end": null,
"aa_length": 604,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509063.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1528G>A",
"hgvs_p": "p.Asp510Asn",
"transcript": "ENST00000876024.1",
"protein_id": "ENSP00000546083.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 601,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876024.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Asp509Asn",
"transcript": "ENST00000876042.1",
"protein_id": "ENSP00000546101.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 600,
"cds_start": 1525,
"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": "ENST00000876042.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Asp508Asn",
"transcript": "ENST00000876050.1",
"protein_id": "ENSP00000546109.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 599,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876050.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1513G>A",
"hgvs_p": "p.Asp505Asn",
"transcript": "ENST00000876031.1",
"protein_id": "ENSP00000546090.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 596,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876031.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Asp503Asn",
"transcript": "ENST00000876045.1",
"protein_id": "ENSP00000546104.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 594,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876045.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALB",
"gene_hgnc_id": 399,
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Asp499Asn",
"transcript": "ENST00000876038.1",
"protein_id": "ENSP00000546097.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 590,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876038.1"
},
{
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "ALBUMIN CASEBROOK|Hyperthyroxinemia, familial dysalbuminemic",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}