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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: 1-91319322-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91319322&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91319322,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000370425.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "NM_001017975.6",
"protein_id": "NP_001017975.5",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "ENST00000370425.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "ENST00000370425.8",
"protein_id": "ENSP00000359454.3",
"transcript_support_level": 1,
"aa_start": 884,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "NM_001017975.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.416T>G",
"hgvs_p": "p.Ile139Ser",
"transcript": "ENST00000430465.1",
"protein_id": "ENSP00000387661.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 624,
"cds_start": 416,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_011540849.2",
"protein_id": "XP_011539151.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2935,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_011540850.3",
"protein_id": "XP_011539152.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_011540851.2",
"protein_id": "XP_011539153.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2751,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_011540852.3",
"protein_id": "XP_011539154.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2570T>G",
"hgvs_p": "p.Ile857Ser",
"transcript": "XM_017000490.2",
"protein_id": "XP_016855979.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1408,
"cds_start": 2570,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2525T>G",
"hgvs_p": "p.Ile842Ser",
"transcript": "XM_011540855.3",
"protein_id": "XP_011539157.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2525,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 4748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_017000491.2",
"protein_id": "XP_016855980.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1391,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_047447938.1",
"protein_id": "XP_047303894.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2651,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_047447940.1",
"protein_id": "XP_047303896.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2228T>G",
"hgvs_p": "p.Ile743Ser",
"transcript": "XM_011540857.2",
"protein_id": "XP_011539159.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1294,
"cds_start": 2228,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.1688T>G",
"hgvs_p": "p.Ile563Ser",
"transcript": "XM_017000492.1",
"protein_id": "XP_016855981.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1688,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.1478T>G",
"hgvs_p": "p.Ile493Ser",
"transcript": "XM_011540859.3",
"protein_id": "XP_011539161.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1478,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_047447955.1",
"protein_id": "XP_047303911.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 959,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser",
"transcript": "XM_047447956.1",
"protein_id": "XP_047303912.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 915,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.980T>G",
"hgvs_p": "p.Ile327Ser",
"transcript": "XM_017000493.1",
"protein_id": "XP_016855982.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 878,
"cds_start": 980,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "n.577T>G",
"hgvs_p": null,
"transcript": "ENST00000462405.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "n.309T>G",
"hgvs_p": null,
"transcript": "ENST00000497520.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "n.2327T>G",
"hgvs_p": null,
"transcript": "NR_165455.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.*93T>G",
"hgvs_p": null,
"transcript": "XM_017000495.2",
"protein_id": "XP_016855984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2583-2846T>G",
"hgvs_p": null,
"transcript": "XM_017000494.2",
"protein_id": "XP_016855983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.*25-2846T>G",
"hgvs_p": null,
"transcript": "XM_017000496.2",
"protein_id": "XP_016855985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"dbsnp": "rs587777268",
"frequency_reference_population": 0.000001240604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84954e-7,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9376540184020996,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.946,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9536,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.246,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370425.8",
"gene_symbol": "HFM1",
"hgnc_id": 20193,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2651T>G",
"hgvs_p": "p.Ile884Ser"
}
],
"clinvar_disease": "Premature ovarian failure 9",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Premature ovarian failure 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}