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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: 4-144995437-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=144995437&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 144995437,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318367.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "NM_001256706.2",
"protein_id": "NP_001243635.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000507656.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256706.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000507656.6",
"protein_id": "ENSP00000423995.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256706.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507656.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000309439.9",
"protein_id": "ENSP00000310071.5",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309439.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000451299.6",
"protein_id": "ENSP00000403891.2",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451299.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285713",
"gene_hgnc_id": null,
"hgvs_c": "n.327+69135G>A",
"hgvs_p": null,
"transcript": "ENST00000649263.1",
"protein_id": "ENSP00000497507.1",
"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": "ENST00000649263.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Ser199Asn",
"transcript": "NM_001318367.2",
"protein_id": "NP_001305296.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 219,
"cds_start": 596,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318367.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Ser176Asn",
"transcript": "NM_001256709.2",
"protein_id": "NP_001243638.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 196,
"cds_start": 527,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256709.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "NM_001256707.2",
"protein_id": "NP_001243636.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256707.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "NM_001256708.2",
"protein_id": "NP_001243637.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256708.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "NM_014885.5",
"protein_id": "NP_055700.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014885.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000613466.4",
"protein_id": "ENSP00000478501.1",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613466.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000877447.1",
"protein_id": "ENSP00000547506.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877447.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000877448.1",
"protein_id": "ENSP00000547507.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877448.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000877449.1",
"protein_id": "ENSP00000547508.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877449.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000877450.1",
"protein_id": "ENSP00000547509.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877450.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000914514.1",
"protein_id": "ENSP00000584573.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914514.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000914515.1",
"protein_id": "ENSP00000584574.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914515.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000914517.1",
"protein_id": "ENSP00000584576.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914517.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000914518.1",
"protein_id": "ENSP00000584577.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914518.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000914519.1",
"protein_id": "ENSP00000584578.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914519.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000914521.1",
"protein_id": "ENSP00000584580.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914521.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC10",
"gene_hgnc_id": 24077,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Ser165Asn",
"transcript": "ENST00000914522.1",
"protein_id": "ENSP00000584581.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 185,
"cds_start": 494,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914522.1"
},
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318367.2",
"gene_symbol": "ANAPC10",
"hgnc_id": 24077,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Ser199Asn"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649263.1",
"gene_symbol": "ENSG00000285713",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.327+69135G>A",
"hgvs_p": null
}
],
"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
}