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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: 7-6023652-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6023652&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6023652,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006303.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.924C>T",
"hgvs_p": "p.Asn308Asn",
"transcript": "NM_006303.4",
"protein_id": "NP_006294.2",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 320,
"cds_start": 924,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223029.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006303.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.924C>T",
"hgvs_p": "p.Asn308Asn",
"transcript": "ENST00000223029.8",
"protein_id": "ENSP00000223029.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 320,
"cds_start": 924,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006303.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223029.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1021G>A",
"hgvs_p": null,
"transcript": "NM_014413.4",
"protein_id": "NP_055228.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000199389.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014413.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1021G>A",
"hgvs_p": null,
"transcript": "ENST00000199389.11",
"protein_id": "ENSP00000199389.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014413.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000199389.11"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Asn279Asn",
"transcript": "NM_001362785.2",
"protein_id": "NP_001349714.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 291,
"cds_start": 837,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362785.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Asn268Asn",
"transcript": "NM_001326606.2",
"protein_id": "NP_001313535.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 280,
"cds_start": 804,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326606.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.792C>T",
"hgvs_p": "p.Asn264Asn",
"transcript": "NM_001362787.2",
"protein_id": "NP_001349716.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 276,
"cds_start": 792,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362787.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asn239Asn",
"transcript": "NM_001326607.2",
"protein_id": "NP_001313536.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 251,
"cds_start": 717,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326607.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asn239Asn",
"transcript": "ENST00000395236.2",
"protein_id": "ENSP00000378658.2",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 251,
"cds_start": 717,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395236.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.690C>T",
"hgvs_p": "p.Asn230Asn",
"transcript": "NM_001326609.2",
"protein_id": "NP_001313538.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 242,
"cds_start": 690,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326609.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.690C>T",
"hgvs_p": "p.Asn230Asn",
"transcript": "NM_001326610.2",
"protein_id": "NP_001313539.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 242,
"cds_start": 690,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326610.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.690C>T",
"hgvs_p": "p.Asn230Asn",
"transcript": "NM_001326611.3",
"protein_id": "NP_001313540.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 242,
"cds_start": 690,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326611.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.690C>T",
"hgvs_p": "p.Asn230Asn",
"transcript": "ENST00000400479.6",
"protein_id": "ENSP00000383327.2",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 242,
"cds_start": 690,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400479.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Asn199Asn",
"transcript": "ENST00000858691.1",
"protein_id": "ENSP00000528750.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 211,
"cds_start": 597,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858691.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.903C>T",
"hgvs_p": "p.Asn301Asn",
"transcript": "XM_005249847.4",
"protein_id": "XP_005249904.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 313,
"cds_start": 903,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249847.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Asn279Asn",
"transcript": "XM_047420834.1",
"protein_id": "XP_047276790.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 291,
"cds_start": 837,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420834.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIMP2",
"gene_hgnc_id": 20609,
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Asn279Asn",
"transcript": "XM_047420835.1",
"protein_id": "XP_047276791.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 291,
"cds_start": 837,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1021G>A",
"hgvs_p": null,
"transcript": "NM_001134335.2",
"protein_id": "NP_001127807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": null,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134335.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*89G>A",
"hgvs_p": null,
"transcript": "ENST00000422786.1",
"protein_id": "ENSP00000392734.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1021G>A",
"hgvs_p": null,
"transcript": "XM_047420200.1",
"protein_id": "XP_047276156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1021G>A",
"hgvs_p": null,
"transcript": "ENST00000858514.1",
"protein_id": "ENSP00000528573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2AK1",
"gene_hgnc_id": 24921,
"hgvs_c": "c.*1021G>A",
"hgvs_p": null,
"transcript": "ENST00000858524.1",
"protein_id": "ENSP00000528583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858524.1"
},
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{
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"BP7",
"BA1"
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{
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"BA1"
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],
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"clinvar_classification": "Benign",
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"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}