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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: 1-56929468-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=56929468&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 56929468,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000066.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu",
"transcript": "NM_000066.4",
"protein_id": "NP_000057.3",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 591,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371237.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000066.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu",
"transcript": "ENST00000371237.9",
"protein_id": "ENSP00000360281.4",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 591,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000066.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371237.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu",
"transcript": "ENST00000696164.1",
"protein_id": "ENSP00000512454.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 591,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696164.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu",
"transcript": "ENST00000875298.1",
"protein_id": "ENSP00000545357.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 591,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875298.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu",
"transcript": "ENST00000875301.1",
"protein_id": "ENSP00000545360.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 591,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875301.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu",
"transcript": "ENST00000875302.1",
"protein_id": "ENSP00000545361.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 591,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875302.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu",
"transcript": "ENST00000875303.1",
"protein_id": "ENSP00000545362.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 591,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875303.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1583C>T",
"hgvs_p": "p.Pro528Leu",
"transcript": "ENST00000695842.1",
"protein_id": "ENSP00000512214.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 548,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695842.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1556C>T",
"hgvs_p": "p.Pro519Leu",
"transcript": "NM_001278543.2",
"protein_id": "NP_001265472.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 539,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278543.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Pro517Leu",
"transcript": "ENST00000875299.1",
"protein_id": "ENSP00000545358.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 537,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875299.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1526C>T",
"hgvs_p": "p.Pro509Leu",
"transcript": "NM_001278544.2",
"protein_id": "NP_001265473.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 529,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278544.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1514C>T",
"hgvs_p": "p.Pro505Leu",
"transcript": "ENST00000875305.1",
"protein_id": "ENSP00000545364.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 525,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875305.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Pro492Leu",
"transcript": "ENST00000875300.1",
"protein_id": "ENSP00000545359.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 512,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875300.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Pro393Leu",
"transcript": "ENST00000875304.1",
"protein_id": "ENSP00000545363.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 413,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1553C>T",
"hgvs_p": null,
"transcript": "ENST00000468990.2",
"protein_id": "ENSP00000512215.1",
"transcript_support_level": 4,
"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": "ENST00000468990.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1817C>T",
"hgvs_p": null,
"transcript": "ENST00000494324.2",
"protein_id": "ENSP00000512216.1",
"transcript_support_level": 4,
"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": "ENST00000494324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1553C>T",
"hgvs_p": null,
"transcript": "ENST00000696165.1",
"protein_id": "ENSP00000512455.1",
"transcript_support_level": null,
"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": "ENST00000696165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1553C>T",
"hgvs_p": null,
"transcript": "ENST00000696166.1",
"protein_id": "ENSP00000512456.1",
"transcript_support_level": null,
"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": "ENST00000696166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1553C>T",
"hgvs_p": null,
"transcript": "ENST00000468990.2",
"protein_id": "ENSP00000512215.1",
"transcript_support_level": 4,
"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": "ENST00000468990.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1817C>T",
"hgvs_p": null,
"transcript": "ENST00000494324.2",
"protein_id": "ENSP00000512216.1",
"transcript_support_level": 4,
"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": "ENST00000494324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1553C>T",
"hgvs_p": null,
"transcript": "ENST00000696165.1",
"protein_id": "ENSP00000512455.1",
"transcript_support_level": null,
"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": "ENST00000696165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"hgvs_c": "n.*1553C>T",
"hgvs_p": null,
"transcript": "ENST00000696166.1",
"protein_id": "ENSP00000512456.1",
"transcript_support_level": null,
"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": "ENST00000696166.1"
}
],
"gene_symbol": "C8B",
"gene_hgnc_id": 1353,
"dbsnp": "rs775719725",
"frequency_reference_population": 6.845114e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84511e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8453478813171387,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.537,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.27,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.596,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000066.4",
"gene_symbol": "C8B",
"hgnc_id": 1353,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Pro571Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}